Canonical Allele Identifier: CA346670583

Gene: ABCG8

Linked Data

• dbSNP Id: rs1325147624
• gnomAD v2: 2-44102480-T-C
• gnomAD v4: 2-43875341-T-C
• MyVariant Identifiers: chr2:g.44102480T>C (hg19) ; chr2:g.43875341T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875341T>C , CM000664.2:g.43875341T>C	GRCh38
NC_000002.11:g.44102480T>C , CM000664.1:g.44102480T>C	GRCh37
NC_000002.10:g.43955984T>C	NCBI36
NG_008884.1:g.41378T>C
NG_008884.2:g.48400T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1684T>C MANE Select	ENSP00000272286.2:p.Phe562Leu
ENST00000272286.2:c.1684T>C	ENSP00000272286.2:p.Phe562Leu
NM_022437.2:c.1684T>C	NP_071882.1:p.Phe562Leu
XM_005264483.2:c.1681T>C	XP_005264540.1:p.Phe561Leu
XM_011533029.1:c.1696T>C	XP_011531331.1:p.Phe566Leu
XM_011533030.1:c.1693T>C	XP_011531332.1:p.Phe565Leu
XM_011533031.1:c.1468T>C	XP_011531333.1:p.Phe490Leu
XR_939707.1:n.2186T>C
NM_001357321.1:c.1681T>C	NP_001344250.1:p.Phe561Leu
XM_011533029.2:c.1696T>C	XP_011531331.1:p.Phe566Leu
XM_011533030.2:c.1693T>C	XP_011531332.1:p.Phe565Leu
XR_001738891.1:n.2200T>C
XR_939707.2:n.2200T>C
NM_022437.3:c.1684T>C MANE Select	NP_071882.1:p.Phe562Leu
NM_001357321.2:c.1681T>C	NP_001344250.1:p.Phe561Leu