Canonical Allele Identifier: CA1637564

Gene: ABCG8

Linked Data

• dbSNP Id: rs777846971
• ExAC: 2:44102416 C / T
• gnomAD v2: 2-44102416-C-T
• gnomAD v4: 2-43875277-C-T
• MyVariant Identifiers: chr2:g.44102416C>T (hg19) ; chr2:g.43875277C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875277C>T , CM000664.2:g.43875277C>T	GRCh38
NC_000002.11:g.44102416C>T , CM000664.1:g.44102416C>T	GRCh37
NC_000002.10:g.43955920C>T	NCBI36
NG_008884.1:g.41314C>T
NG_008884.2:g.48336C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1620C>T MANE Select	ENSP00000272286.2:p.Phe540=
ENST00000272286.2:c.1620C>T	ENSP00000272286.2:p.Phe540=
NM_022437.2:c.1620C>T	NP_071882.1:p.Phe540=
XM_005264483.2:c.1617C>T	XP_005264540.1:p.Phe539=
XM_011533029.1:c.1632C>T	XP_011531331.1:p.Phe544=
XM_011533030.1:c.1629C>T	XP_011531332.1:p.Phe543=
XM_011533031.1:c.1404C>T	XP_011531333.1:p.Phe468=
XR_939707.1:n.2122C>T
NM_001357321.1:c.1617C>T	NP_001344250.1:p.Phe539=
XM_011533029.2:c.1632C>T	XP_011531331.1:p.Phe544=
XM_011533030.2:c.1629C>T	XP_011531332.1:p.Phe543=
XR_001738891.1:n.2136C>T
XR_939707.2:n.2136C>T
NM_022437.3:c.1620C>T MANE Select	NP_071882.1:p.Phe540=
NM_001357321.2:c.1617C>T	NP_001344250.1:p.Phe539=