Canonical Allele Identifier: CA7019400

Gene: ABCC4

Linked Data

• dbSNP Id: rs757008486
• ExAC: 13:95822824 A / G
• gnomAD v2: 13-95822824-A-G
• gnomAD v3: 13-95170570-A-G
• gnomAD v4: 13-95170570-A-G
• MyVariant Identifiers: chr13:g.95822824A>G (hg19) ; chr13:g.95170570A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170570A>G , CM000675.2:g.95170570A>G	GRCh38
NC_000013.10:g.95822824A>G , CM000675.1:g.95822824A>G	GRCh37
NC_000013.9:g.94620825A>G	NCBI36
NG_050651.1:g.135877T>C
NG_050651.2:g.135877T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1819T>C	ENSP00000493766.1:n.*1819T>C
ENST00000643051.1:c.1786T>C	ENSP00000495513.1:p.Tyr596His
ENST00000643556.1:c.1927T>C	ENSP00000494938.1:n.1927T>C
ENST00000643816.1:n.2069T>C
ENST00000643842.1:c.*1832T>C	ENSP00000493861.1:n.*1832T>C
ENST00000644471.1:n.1877T>C
ENST00000645237.2:c.1786T>C MANE Select	ENSP00000494609.1:p.Tyr596His
ENST00000645532.1:c.1825T>C	ENSP00000494431.1:p.Tyr609His
ENST00000646439.1:c.1786T>C	ENSP00000494751.1:p.Tyr596His
ENST00000376887.8:c.1786T>C	ENSP00000366084.4:p.Tyr596His
ENST00000536256.3:c.1561T>C	ENSP00000442024.1:p.Tyr521His
ENST00000629385.1:c.1786T>C	ENSP00000487081.1:p.Tyr596His
NM_001105515.2:c.1786T>C	NP_001098985.1:p.Tyr596His
NM_001301829.1:c.1786T>C	NP_001288758.1:p.Tyr596His
NM_001301830.1:c.1561T>C	NP_001288759.1:p.Tyr521His
NM_005845.4:c.1786T>C	NP_005836.2:p.Tyr596His
XM_005254025.2:c.1657T>C	XP_005254082.1:p.Tyr553His
XM_006719914.1:c.1696T>C	XP_006719977.1:p.Tyr566His
XM_011521047.1:c.1237T>C	XP_011519349.1:p.Tyr413His
XM_017020319.1:c.1657T>C	XP_016875808.1:p.Tyr553His
XM_017020320.2:c.1786T>C	XP_016875809.1:p.Tyr596His
XM_017020321.1:c.271T>C	XP_016875810.1:p.Tyr91His
XM_017020322.1:c.1657T>C	XP_016875811.1:p.Tyr553His
NM_001105515.3:c.1786T>C	NP_001098985.1:p.Tyr596His
NM_001301829.2:c.1786T>C	NP_001288758.1:p.Tyr596His
NM_001301830.2:c.1561T>C	NP_001288759.1:p.Tyr521His
NM_005845.5:c.1786T>C MANE Select	NP_005836.2:p.Tyr596His