Canonical Allele Identifier: CA6315897

Gene: ABCG4

Linked Data

• dbSNP Id: rs193920956
• ExAC: 11:119020912 G / C
• gnomAD v2: 11-119020912-G-C
• gnomAD v4: 11-119150202-G-C
• MyVariant Identifiers: chr11:g.119020912G>C (hg19) ; chr11:g.119150202G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119150202G>C , CM000673.2:g.119150202G>C	GRCh38
NC_000011.9:g.119020912G>C , CM000673.1:g.119020912G>C	GRCh37
NC_000011.8:g.118526122G>C	NCBI36
NG_047178.1:g.6163G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619701.5:c.237G>C MANE Select	ENSP00000481728.1:p.Arg79Ser
ENST00000524604.5:c.237G>C	ENSP00000431915.1:p.Arg79Ser
ENST00000615496.4:c.237G>C	ENSP00000479253.1:p.Arg79Ser
ENST00000619701.4:c.237G>C	ENSP00000481728.1:p.Arg79Ser
ENST00000622721.1:c.237G>C	ENSP00000484289.1:p.Arg79Ser
NM_001142505.1:c.237G>C	NP_001135977.1:p.Arg79Ser
NM_022169.4:c.237G>C	NP_071452.2:p.Arg79Ser
NM_001348191.1:c.237G>C	NP_001335120.1:p.Arg79Ser
NM_001348192.1:c.-2G>C	NP_001335121.1:n.-2G>C
NM_022169.5:c.237G>C MANE Select	NP_071452.2:p.Arg79Ser
NM_001348191.2:c.237G>C	NP_001335120.1:p.Arg79Ser
NM_001348192.2:c.-2G>C	NP_001335121.1:n.-2G>C