Canonical Allele Identifier: CA346670476

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43875285-G-A
• COSMIC: COSM4529620
• MyVariant Identifiers: chr2:g.44102424G>A (hg19) ; chr2:g.43875285G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875285G>A , CM000664.2:g.43875285G>A	GRCh38
NC_000002.11:g.44102424G>A , CM000664.1:g.44102424G>A	GRCh37
NC_000002.10:g.43955928G>A	NCBI36
NG_008884.1:g.41322G>A
NG_008884.2:g.48344G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1628G>A MANE Select	ENSP00000272286.2:p.Arg543Lys
ENST00000272286.2:c.1628G>A	ENSP00000272286.2:p.Arg543Lys
NM_022437.2:c.1628G>A	NP_071882.1:p.Arg543Lys
XM_005264483.2:c.1625G>A	XP_005264540.1:p.Arg542Lys
XM_011533029.1:c.1640G>A	XP_011531331.1:p.Arg547Lys
XM_011533030.1:c.1637G>A	XP_011531332.1:p.Arg546Lys
XM_011533031.1:c.1412G>A	XP_011531333.1:p.Arg471Lys
XR_939707.1:n.2130G>A
NM_001357321.1:c.1625G>A	NP_001344250.1:p.Arg542Lys
XM_011533029.2:c.1640G>A	XP_011531331.1:p.Arg547Lys
XM_011533030.2:c.1637G>A	XP_011531332.1:p.Arg546Lys
XR_001738891.1:n.2144G>A
XR_939707.2:n.2144G>A
NM_022437.3:c.1628G>A MANE Select	NP_071882.1:p.Arg543Lys
NM_001357321.2:c.1625G>A	NP_001344250.1:p.Arg542Lys