Canonical Allele Identifier: CA346670954

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43877657-G-C
• MyVariant Identifiers: chr2:g.44104796G>C (hg19) ; chr2:g.43877657G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877657G>C , CM000664.2:g.43877657G>C	GRCh38
NC_000002.11:g.44104796G>C , CM000664.1:g.44104796G>C	GRCh37
NC_000002.10:g.43958300G>C	NCBI36
NG_008884.1:g.43694G>C
NG_008884.2:g.50716G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1853G>C MANE Select	ENSP00000272286.2:p.Gly618Ala
ENST00000272286.2:c.1853G>C	ENSP00000272286.2:p.Gly618Ala
NM_022437.2:c.1853G>C	NP_071882.1:p.Gly618Ala
XM_005264483.2:c.1850G>C	XP_005264540.1:p.Gly617Ala
XM_011533029.1:c.1865G>C	XP_011531331.1:p.Gly622Ala
XM_011533030.1:c.1862G>C	XP_011531332.1:p.Gly621Ala
XM_011533031.1:c.1637G>C	XP_011531333.1:p.Gly546Ala
XR_939707.1:n.2355G>C
NM_001357321.1:c.1850G>C	NP_001344250.1:p.Gly617Ala
XM_011533029.2:c.1865G>C	XP_011531331.1:p.Gly622Ala
XM_011533030.2:c.1862G>C	XP_011531332.1:p.Gly621Ala
XR_001738891.1:n.2369G>C
XR_939707.2:n.2369G>C
NM_022437.3:c.1853G>C MANE Select	NP_071882.1:p.Gly618Ala
NM_001357321.2:c.1850G>C	NP_001344250.1:p.Gly617Ala