Canonical Allele Identifier: CA455886817

Gene: ELN

Linked Data

• gnomAD v4: 7-74063157-A-T
• MyVariant Identifiers: chr7:g.73477487A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74063157A>T , CM000669.2:g.74063157A>T	GRCh38
NC_000007.13:g.73477487A>T , CM000669.1:g.73477487A>T	GRCh37
NC_000007.12:g.73115423A>T	NCBI36
NG_009261.1:g.40061A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.1977A>T	ENSP00000510104.1:p.Ala659=
ENST00000252034.12:c.1791A>T MANE Select	ENSP00000252034.7:p.Ala597=
ENST00000252034.11:c.1791A>T	ENSP00000252034.7:p.Ala597=
ENST00000320399.10:c.1890A>T	ENSP00000313565.6:p.Ala630=
ENST00000320492.11:c.1548A>T	ENSP00000315607.7:p.Ala516=
ENST00000357036.9:c.1806A>T	ENSP00000349540.5:p.Ala602=
ENST00000358929.8:c.1977A>T	ENSP00000351807.5:p.Ala659=
ENST00000380553.8:c.1383A>T	ENSP00000369926.4:p.Ala461=
ENST00000380562.8:c.1809A>T	ENSP00000369936.4:p.Ala603=
ENST00000380575.8:c.1704A>T	ENSP00000369949.4:p.Ala568=
ENST00000380576.9:c.1734A>T	ENSP00000369950.5:p.Ala578=
ENST00000380584.8:c.1647A>T	ENSP00000369958.4:p.Ala549=
ENST00000414324.5:c.1719A>T	ENSP00000392575.1:p.Ala573=
ENST00000429192.5:c.1749A>T	ENSP00000391129.1:p.Ala583=
ENST00000445912.5:c.1791A>T	ENSP00000389857.1:p.Ala597=
ENST00000458204.5:c.1761A>T	ENSP00000403162.1:p.Ala587=
ENST00000621115.4:c.1524A>T	ENSP00000480955.1:p.Ala508=
NM_000501.3:c.1791A>T	NP_000492.2:p.Ala597=
NM_001081752.2:c.1704A>T	NP_001075221.1:p.Ala568=
NM_001081753.2:c.1749A>T	NP_001075222.1:p.Ala583=
NM_001081754.2:c.1806A>T	NP_001075223.1:p.Ala602=
NM_001081755.2:c.1734A>T	NP_001075224.1:p.Ala578=
NM_001278912.1:c.1791A>T	NP_001265841.1:p.Ala597=
NM_001278913.1:c.1548A>T	NP_001265842.1:p.Ala516=
NM_001278914.1:c.1719A>T	NP_001265843.1:p.Ala573=
NM_001278915.1:c.1809A>T	NP_001265844.1:p.Ala603=
NM_001278916.1:c.1647A>T	NP_001265845.1:p.Ala549=
NM_001278917.1:c.1761A>T	NP_001265846.1:p.Ala587=
NM_001278918.1:c.1524A>T	NP_001265847.1:p.Ala508=
NM_001278939.1:c.1977A>T	NP_001265868.1:p.Ala659=
XM_005250187.1:c.1755A>T	XP_005250244.1:p.Ala585=
XM_005250188.1:c.1749A>T	XP_005250245.1:p.Ala583=
XM_011515868.1:c.1806A>T	XP_011514170.1:p.Ala602=
XM_011515869.1:c.1776A>T	XP_011514171.1:p.Ala592=
XM_011515870.1:c.1770A>T	XP_011514172.1:p.Ala590=
XM_011515871.1:c.1764A>T	XP_011514173.1:p.Ala588=
XM_011515872.1:c.1752A>T	XP_011514174.1:p.Ala584=
XM_011515873.1:c.1749A>T	XP_011514175.1:p.Ala583=
XM_011515874.1:c.1740A>T	XP_011514176.1:p.Ala580=
XM_011515875.1:c.1725A>T	XP_011514177.1:p.Ala575=
XM_011515876.1:c.1806A>T	XP_011514178.1:p.Ala602=
XM_011515877.1:c.1695A>T	XP_011514179.1:p.Ala565=
XM_005250187.2:c.1755A>T	XP_005250244.1:p.Ala585=
XM_005250188.2:c.1749A>T	XP_005250245.1:p.Ala583=
XM_011515868.2:c.1806A>T	XP_011514170.1:p.Ala602=
XM_011515871.2:c.1764A>T	XP_011514173.1:p.Ala588=
XM_011515872.2:c.1752A>T	XP_011514174.1:p.Ala584=
XM_011515873.2:c.1749A>T	XP_011514175.1:p.Ala583=
XM_011515875.2:c.1725A>T	XP_011514177.1:p.Ala575=
XM_011515876.2:c.1806A>T	XP_011514178.1:p.Ala602=
XM_011515877.2:c.1695A>T	XP_011514179.1:p.Ala565=
XM_017011813.1:c.1719A>T	XP_016867302.1:p.Ala573=
XM_017011814.2:c.1707A>T	XP_016867303.1:p.Ala569=
NM_000501.4:c.1791A>T MANE Select	NP_000492.2:p.Ala597=
NM_001081752.3:c.1704A>T	NP_001075221.1:p.Ala568=
NM_001081753.3:c.1749A>T	NP_001075222.1:p.Ala583=
NM_001081754.3:c.1806A>T	NP_001075223.1:p.Ala602=
NM_001081755.3:c.1734A>T	NP_001075224.1:p.Ala578=
NM_001278912.2:c.1791A>T	NP_001265841.1:p.Ala597=
NM_001278913.2:c.1548A>T	NP_001265842.1:p.Ala516=
NM_001278914.2:c.1719A>T	NP_001265843.1:p.Ala573=
NM_001278915.2:c.1809A>T	NP_001265844.1:p.Ala603=
NM_001278916.2:c.1647A>T	NP_001265845.1:p.Ala549=
NM_001278917.2:c.1761A>T	NP_001265846.1:p.Ala587=
NM_001278918.2:c.1524A>T	NP_001265847.1:p.Ala508=
NM_001278939.2:c.1977A>T	NP_001265868.1:p.Ala659=