Canonical Allele Identifier: CA484497977

Gene: ABCC4

Linked Data

• dbSNP Id: rs2038073451
• MyVariant Identifiers: chr13:g.95838963G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95186709G>A , CM000675.2:g.95186709G>A	GRCh38
NC_000013.10:g.95838963G>A , CM000675.1:g.95838963G>A	GRCh37
NC_000013.9:g.94636964G>A	NCBI36
NG_050651.1:g.119738C>T
NG_050651.2:g.119738C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642524.1:c.*1570C>T	ENSP00000493766.1:n.*1570C>T
ENST00000643051.1:c.1537C>T	ENSP00000495513.1:p.Leu513=
ENST00000643556.1:c.1678C>T	ENSP00000494938.1:n.1678C>T
ENST00000643816.1:n.1820C>T
ENST00000643842.1:c.*1583C>T	ENSP00000493861.1:n.*1583C>T
ENST00000644471.1:n.1633C>T
ENST00000645237.2:c.1537C>T MANE Select	ENSP00000494609.1:p.Leu513=
ENST00000645532.1:c.1576C>T	ENSP00000494431.1:p.Leu526=
ENST00000646439.1:c.1537C>T	ENSP00000494751.1:p.Leu513=
ENST00000376887.8:c.1537C>T	ENSP00000366084.4:p.Leu513=
ENST00000536256.3:c.1312C>T	ENSP00000442024.1:p.Leu438=
ENST00000629385.1:c.1537C>T	ENSP00000487081.1:p.Leu513=
NM_001105515.2:c.1537C>T	NP_001098985.1:p.Leu513=
NM_001301829.1:c.1537C>T	NP_001288758.1:p.Leu513=
NM_001301830.1:c.1312C>T	NP_001288759.1:p.Leu438=
NM_005845.4:c.1537C>T	NP_005836.2:p.Leu513=
XM_005254025.2:c.1408C>T	XP_005254082.1:p.Leu470=
XM_006719914.1:c.1447C>T	XP_006719977.1:p.Leu483=
XM_011521047.1:c.988C>T	XP_011519349.1:p.Leu330=
XM_017020319.1:c.1408C>T	XP_016875808.1:p.Leu470=
XM_017020320.2:c.1537C>T	XP_016875809.1:p.Leu513=
XM_017020322.1:c.1408C>T	XP_016875811.1:p.Leu470=
NM_001105515.3:c.1537C>T	NP_001098985.1:p.Leu513=
NM_001301829.2:c.1537C>T	NP_001288758.1:p.Leu513=
NM_001301830.2:c.1312C>T	NP_001288759.1:p.Leu438=
NM_005845.5:c.1537C>T MANE Select	NP_005836.2:p.Leu513=