Canonical Allele Identifier: CA346671246

Gene: ABCG8

Linked Data

• dbSNP Id: rs1670013138
• gnomAD v3: 2-43877804-A-C
• gnomAD v4: 2-43877804-A-C
• MyVariant Identifiers: chr2:g.44104943A>C (hg19) ; chr2:g.43877804A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877804A>C , CM000664.2:g.43877804A>C	GRCh38
NC_000002.11:g.44104943A>C , CM000664.1:g.44104943A>C	GRCh37
NC_000002.10:g.43958447A>C	NCBI36
NG_008884.1:g.43841A>C
NG_008884.2:g.50863A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1913A>C MANE Select	ENSP00000272286.2:p.Tyr638Ser
ENST00000272286.2:c.1913A>C	ENSP00000272286.2:p.Tyr638Ser
NM_022437.2:c.1913A>C	NP_071882.1:p.Tyr638Ser
XM_005264483.2:c.1910A>C	XP_005264540.1:p.Tyr637Ser
XM_011533029.1:c.1925A>C	XP_011531331.1:p.Tyr642Ser
XM_011533030.1:c.1922A>C	XP_011531332.1:p.Tyr641Ser
XM_011533031.1:c.1697A>C	XP_011531333.1:p.Tyr566Ser
XR_939707.1:n.2415A>C
NM_001357321.1:c.1910A>C	NP_001344250.1:p.Tyr637Ser
XM_011533029.2:c.1925A>C	XP_011531331.1:p.Tyr642Ser
XM_011533030.2:c.1922A>C	XP_011531332.1:p.Tyr641Ser
XR_001738891.1:n.2429A>C
XR_939707.2:n.2429A>C
NM_022437.3:c.1913A>C MANE Select	NP_071882.1:p.Tyr638Ser
NM_001357321.2:c.1910A>C	NP_001344250.1:p.Tyr637Ser