Canonical Allele Identifier: CA425908305

Gene: ABCG8

Linked Data

• dbSNP Id: rs1262550797
• gnomAD v3: 2-43877817-C-T
• gnomAD v4: 2-43877817-C-T
• MyVariant Identifiers: chr2:g.44104956C>T (hg19) ; chr2:g.43877817C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877817C>T , CM000664.2:g.43877817C>T	GRCh38
NC_000002.11:g.44104956C>T , CM000664.1:g.44104956C>T	GRCh37
NC_000002.10:g.43958460C>T	NCBI36
NG_008884.1:g.43854C>T
NG_008884.2:g.50876C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1926C>T MANE Select	ENSP00000272286.2:p.Ala642=
ENST00000272286.2:c.1926C>T	ENSP00000272286.2:p.Ala642=
NM_022437.2:c.1926C>T	NP_071882.1:p.Ala642=
XM_005264483.2:c.1923C>T	XP_005264540.1:p.Ala641=
XM_011533029.1:c.1938C>T	XP_011531331.1:p.Ala646=
XM_011533030.1:c.1935C>T	XP_011531332.1:p.Ala645=
XM_011533031.1:c.1710C>T	XP_011531333.1:p.Ala570=
XR_939707.1:n.2428C>T
NM_001357321.1:c.1923C>T	NP_001344250.1:p.Ala641=
XM_011533029.2:c.1938C>T	XP_011531331.1:p.Ala646=
XM_011533030.2:c.1935C>T	XP_011531332.1:p.Ala645=
XR_001738891.1:n.2442C>T
XR_939707.2:n.2442C>T
NM_022437.3:c.1926C>T MANE Select	NP_071882.1:p.Ala642=
NM_001357321.2:c.1923C>T	NP_001344250.1:p.Ala641=