Canonical Allele Identifier: CA425908337

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43877862-G-C
• MyVariant Identifiers: chr2:g.44105001G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877862G>C , CM000664.2:g.43877862G>C	GRCh38
NC_000002.11:g.44105001G>C , CM000664.1:g.44105001G>C	GRCh37
NC_000002.10:g.43958505G>C	NCBI36
NG_008884.1:g.43899G>C
NG_008884.2:g.50921G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1971G>C MANE Select	ENSP00000272286.2:p.Leu657=
ENST00000272286.2:c.1971G>C	ENSP00000272286.2:p.Leu657=
NM_022437.2:c.1971G>C	NP_071882.1:p.Leu657=
XM_005264483.2:c.1968G>C	XP_005264540.1:p.Leu656=
XM_011533029.1:c.1983G>C	XP_011531331.1:p.Leu661=
XM_011533030.1:c.1980G>C	XP_011531332.1:p.Leu660=
XM_011533031.1:c.1755G>C	XP_011531333.1:p.Leu585=
XR_939707.1:n.2473G>C
NM_001357321.1:c.1968G>C	NP_001344250.1:p.Leu656=
XM_011533029.2:c.1983G>C	XP_011531331.1:p.Leu661=
XM_011533030.2:c.1980G>C	XP_011531332.1:p.Leu660=
XR_001738891.1:n.2487G>C
XR_939707.2:n.2487G>C
NM_022437.3:c.1971G>C MANE Select	NP_071882.1:p.Leu657=
NM_001357321.2:c.1968G>C	NP_001344250.1:p.Leu656=