Canonical Allele Identifier: CA425908343

Gene: ABCG8

Linked Data

• dbSNP Id: rs773719172
• gnomAD v2: 2-44105013-C-A
• gnomAD v4: 2-43877874-C-A
• MyVariant Identifiers: chr2:g.44105013C>A (hg19) ; chr2:g.43877874C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877874C>A , CM000664.2:g.43877874C>A	GRCh38
NC_000002.11:g.44105013C>A , CM000664.1:g.44105013C>A	GRCh37
NC_000002.10:g.43958517C>A	NCBI36
NG_008884.1:g.43911C>A
NG_008884.2:g.50933C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1983C>A MANE Select	ENSP00000272286.2:p.Ser661=
ENST00000272286.2:c.1983C>A	ENSP00000272286.2:p.Ser661=
NM_022437.2:c.1983C>A	NP_071882.1:p.Ser661=
XM_005264483.2:c.1980C>A	XP_005264540.1:p.Ser660=
XM_011533029.1:c.1995C>A	XP_011531331.1:p.Ser665=
XM_011533030.1:c.1992C>A	XP_011531332.1:p.Ser664=
XM_011533031.1:c.1767C>A	XP_011531333.1:p.Ser589=
XR_939707.1:n.2485C>A
NM_001357321.1:c.1980C>A	NP_001344250.1:p.Ser660=
XM_011533029.2:c.1995C>A	XP_011531331.1:p.Ser665=
XM_011533030.2:c.1992C>A	XP_011531332.1:p.Ser664=
XR_001738891.1:n.2499C>A
XR_939707.2:n.2499C>A
NM_022437.3:c.1983C>A MANE Select	NP_071882.1:p.Ser661=
NM_001357321.2:c.1980C>A	NP_001344250.1:p.Ser660=