Canonical Allele Identifier: CA7019398

Gene: ABCC4

Linked Data

• dbSNP Id: rs763787578
• ExAC: 13:95822812 C / T
• gnomAD v2: 13-95822812-C-T
• gnomAD v4: 13-95170558-C-T
• MyVariant Identifiers: chr13:g.95822812C>T (hg19) ; chr13:g.95170558C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170558C>T , CM000675.2:g.95170558C>T	GRCh38
NC_000013.10:g.95822812C>T , CM000675.1:g.95822812C>T	GRCh37
NC_000013.9:g.94620813C>T	NCBI36
NG_050651.1:g.135889G>A
NG_050651.2:g.135889G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1831G>A	ENSP00000493766.1:n.*1831G>A
ENST00000643051.1:c.1798G>A	ENSP00000495513.1:p.Ala600Thr
ENST00000643556.1:c.1939G>A	ENSP00000494938.1:n.1939G>A
ENST00000643816.1:n.2081G>A
ENST00000643842.1:c.*1844G>A	ENSP00000493861.1:n.*1844G>A
ENST00000644471.1:n.1889G>A
ENST00000645237.2:c.1798G>A MANE Select	ENSP00000494609.1:p.Ala600Thr
ENST00000645532.1:c.1837G>A	ENSP00000494431.1:p.Ala613Thr
ENST00000646439.1:c.1798G>A	ENSP00000494751.1:p.Ala600Thr
ENST00000376887.8:c.1798G>A	ENSP00000366084.4:p.Ala600Thr
ENST00000536256.3:c.1573G>A	ENSP00000442024.1:p.Ala525Thr
ENST00000629385.1:c.1798G>A	ENSP00000487081.1:p.Ala600Thr
NM_001105515.2:c.1798G>A	NP_001098985.1:p.Ala600Thr
NM_001301829.1:c.1798G>A	NP_001288758.1:p.Ala600Thr
NM_001301830.1:c.1573G>A	NP_001288759.1:p.Ala525Thr
NM_005845.4:c.1798G>A	NP_005836.2:p.Ala600Thr
XM_005254025.2:c.1669G>A	XP_005254082.1:p.Ala557Thr
XM_006719914.1:c.1708G>A	XP_006719977.1:p.Ala570Thr
XM_011521047.1:c.1249G>A	XP_011519349.1:p.Ala417Thr
XM_017020319.1:c.1669G>A	XP_016875808.1:p.Ala557Thr
XM_017020320.2:c.1798G>A	XP_016875809.1:p.Ala600Thr
XM_017020321.1:c.283G>A	XP_016875810.1:p.Ala95Thr
XM_017020322.1:c.1669G>A	XP_016875811.1:p.Ala557Thr
NM_001105515.3:c.1798G>A	NP_001098985.1:p.Ala600Thr
NM_001301829.2:c.1798G>A	NP_001288758.1:p.Ala600Thr
NM_001301830.2:c.1573G>A	NP_001288759.1:p.Ala525Thr
NM_005845.5:c.1798G>A MANE Select	NP_005836.2:p.Ala600Thr