Canonical Allele Identifier: CA346671011

Gene: ABCG8

Linked Data

• dbSNP Id: rs1670006675
• MyVariant Identifiers: chr2:g.44104826A>G (hg19) ; chr2:g.43877687A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877687A>G , CM000664.2:g.43877687A>G	GRCh38
NC_000002.11:g.44104826A>G , CM000664.1:g.44104826A>G	GRCh37
NC_000002.10:g.43958330A>G	NCBI36
NG_008884.1:g.43724A>G
NG_008884.2:g.50746A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1883A>G MANE Select	ENSP00000272286.2:p.Lys628Arg
ENST00000272286.2:c.1883A>G	ENSP00000272286.2:p.Lys628Arg
NM_022437.2:c.1883A>G	NP_071882.1:p.Lys628Arg
XM_005264483.2:c.1880A>G	XP_005264540.1:p.Lys627Arg
XM_011533029.1:c.1895A>G	XP_011531331.1:p.Lys632Arg
XM_011533030.1:c.1892A>G	XP_011531332.1:p.Lys631Arg
XM_011533031.1:c.1667A>G	XP_011531333.1:p.Lys556Arg
XR_939707.1:n.2385A>G
NM_001357321.1:c.1880A>G	NP_001344250.1:p.Lys627Arg
XM_011533029.2:c.1895A>G	XP_011531331.1:p.Lys632Arg
XM_011533030.2:c.1892A>G	XP_011531332.1:p.Lys631Arg
XR_001738891.1:n.2399A>G
XR_939707.2:n.2399A>G
NM_022437.3:c.1883A>G MANE Select	NP_071882.1:p.Lys628Arg
NM_001357321.2:c.1880A>G	NP_001344250.1:p.Lys627Arg