Canonical Allele Identifier: CA13820115

Gene: ABCC4

Identifiers and link-outs to other resources

• dbSNP Id: rs1926657
• gnomAD: 13:95874956 T / C
• MyVariant Identifiers: chr13:g.95874956T>C (hg19) ; chr13:g.95222702T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95222702T>C , CM000675.2:g.95222702T>C	GRCh38
NC_000013.10:g.95874956T>C , CM000675.1:g.95874956T>C	GRCh37
NC_000013.9:g.94672957T>C	NCBI36
NG_050651.1:g.83745A>G

Transcript Alleles

HGVS	Amino-acid change
NM_001105515.2:c.531+11908A>G VV	NP_001098985.1:p.=
NM_001301829.1:c.531+11908A>G VV	NP_001288758.1:p.=
NM_001301830.1:c.307-11921A>G VV	NP_001288759.1:p.=
NM_005845.4:c.531+11908A>G VV	NP_005836.2:p.=
XM_005254025.2:c.402+11908A>G	XP_005254082.1:p.=
XM_006719914.1:c.531+11908A>G	XP_006719977.1:p.=
XM_017020319.1:c.402+11908A>G	XP_016875808.1:p.=
XM_017020320.2:c.531+11908A>G	XP_016875809.1:p.=
XM_017020322.1:c.402+11908A>G	XP_016875811.1:p.=
NM_001105515.3:c.531+11908A>G VV	NP_001098985.1:p.=
NM_001301829.2:c.531+11908A>G VV	NP_001288758.1:p.=
NM_001301830.2:c.307-11921A>G VV	NP_001288759.1:p.=
NM_005845.5:c.531+11908A>G VV MANE Preferred	NP_005836.2:p.=
ENST00000376887.8:c.531+11908A>G	ENSP00000366084.4:p.=
ENST00000536256.3:c.307-11921A>G	ENSP00000442024.1:p.=
ENST00000629385.1:c.531+11908A>G	ENSP00000487081.1:p.=