Canonical Allele Identifier: CA346671360

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43877833-A-C
• MyVariant Identifiers: chr2:g.44104972A>C (hg19) ; chr2:g.43877833A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877833A>C , CM000664.2:g.43877833A>C	GRCh38
NC_000002.11:g.44104972A>C , CM000664.1:g.44104972A>C	GRCh37
NC_000002.10:g.43958476A>C	NCBI36
NG_008884.1:g.43870A>C
NG_008884.2:g.50892A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1942A>C MANE Select	ENSP00000272286.2:p.Ile648Leu
ENST00000272286.2:c.1942A>C	ENSP00000272286.2:p.Ile648Leu
NM_022437.2:c.1942A>C	NP_071882.1:p.Ile648Leu
XM_005264483.2:c.1939A>C	XP_005264540.1:p.Ile647Leu
XM_011533029.1:c.1954A>C	XP_011531331.1:p.Ile652Leu
XM_011533030.1:c.1951A>C	XP_011531332.1:p.Ile651Leu
XM_011533031.1:c.1726A>C	XP_011531333.1:p.Ile576Leu
XR_939707.1:n.2444A>C
NM_001357321.1:c.1939A>C	NP_001344250.1:p.Ile647Leu
XM_011533029.2:c.1954A>C	XP_011531331.1:p.Ile652Leu
XM_011533030.2:c.1951A>C	XP_011531332.1:p.Ile651Leu
XR_001738891.1:n.2458A>C
XR_939707.2:n.2458A>C
NM_022437.3:c.1942A>C MANE Select	NP_071882.1:p.Ile648Leu
NM_001357321.2:c.1939A>C	NP_001344250.1:p.Ile647Leu