Canonical Allele Identifier: CA1637565

Gene: ABCG8

Linked Data

• dbSNP Id: rs747197772
• ExAC: 2:44102418 G / T
• MyVariant Identifiers: chr2:g.44102418G>T (hg19) ; chr2:g.43875279G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875279G>T , CM000664.2:g.43875279G>T	GRCh38
NC_000002.11:g.44102418G>T , CM000664.1:g.44102418G>T	GRCh37
NC_000002.10:g.43955922G>T	NCBI36
NG_008884.1:g.41316G>T
NG_008884.2:g.48338G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1622G>T MANE Select	ENSP00000272286.2:p.Cys541Phe
ENST00000272286.2:c.1622G>T	ENSP00000272286.2:p.Cys541Phe
NM_022437.2:c.1622G>T	NP_071882.1:p.Cys541Phe
XM_005264483.2:c.1619G>T	XP_005264540.1:p.Cys540Phe
XM_011533029.1:c.1634G>T	XP_011531331.1:p.Cys545Phe
XM_011533030.1:c.1631G>T	XP_011531332.1:p.Cys544Phe
XM_011533031.1:c.1406G>T	XP_011531333.1:p.Cys469Phe
XR_939707.1:n.2124G>T
NM_001357321.1:c.1619G>T	NP_001344250.1:p.Cys540Phe
XM_011533029.2:c.1634G>T	XP_011531331.1:p.Cys545Phe
XM_011533030.2:c.1631G>T	XP_011531332.1:p.Cys544Phe
XR_001738891.1:n.2138G>T
XR_939707.2:n.2138G>T
NM_022437.3:c.1622G>T MANE Select	NP_071882.1:p.Cys541Phe
NM_001357321.2:c.1619G>T	NP_001344250.1:p.Cys540Phe