Canonical Allele Identifier: CA842054416

Gene: ELN

Linked Data

• dbSNP Id: rs1203019031
• gnomAD v4: 7-74028100-C-T
• MyVariant Identifiers: chr7:g.74028100C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74028100C>T , CM000669.2:g.74028100C>T	GRCh38
NC_000007.13:g.73442430C>T , CM000669.1:g.73442430C>T	GRCh37
NC_000007.12:g.73080366C>T	NCBI36
NG_009261.1:g.5004C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252034.11:c.-88C>T	ENSP00000252034.7:n.-88C>T
ENST00000358929.8:c.-88C>T	ENSP00000351807.5:n.-88C>T
ENST00000445912.5:c.-88C>T	ENSP00000389857.1:n.-88C>T
ENST00000621115.4:c.-88C>T	ENSP00000480955.1:n.-88C>T
NM_000501.3:c.-88C>T	NP_000492.2:n.-88C>T
NM_001081752.2:c.-88C>T	NP_001075221.1:n.-88C>T
NM_001081753.2:c.-88C>T	NP_001075222.1:n.-88C>T
NM_001081754.2:c.-88C>T	NP_001075223.1:n.-88C>T
NM_001081755.2:c.-88C>T	NP_001075224.1:n.-88C>T
NM_001278912.1:c.-88C>T	NP_001265841.1:n.-88C>T
NM_001278913.1:c.-88C>T	NP_001265842.1:n.-88C>T
NM_001278914.1:c.-88C>T	NP_001265843.1:n.-88C>T
NM_001278915.1:c.-88C>T	NP_001265844.1:n.-88C>T
NM_001278916.1:c.-88C>T	NP_001265845.1:n.-88C>T
NM_001278917.1:c.-88C>T	NP_001265846.1:n.-88C>T
NM_001278918.1:c.-88C>T	NP_001265847.1:n.-88C>T
NM_001278939.1:c.-88C>T	NP_001265868.1:n.-88C>T
XM_011515870.1:c.-88C>T	XP_011514172.1:n.-88C>T
XM_011515874.1:c.-88C>T	XP_011514176.1:n.-88C>T
XM_011515875.2:c.-88C>T	XP_011514177.1:n.-88C>T