Canonical Allele Identifier: CA426116451

Gene: ABCG8

Linked Data

• dbSNP Id: rs1175773666
• gnomAD v2: 2-44102506-C-T
• gnomAD v3: 2-43875367-C-T
• gnomAD v4: 2-43875367-C-T
• MyVariant Identifiers: chr2:g.44102506C>T (hg19) ; chr2:g.43875367C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875367C>T , CM000664.2:g.43875367C>T	GRCh38
NC_000002.11:g.44102506C>T , CM000664.1:g.44102506C>T	GRCh37
NC_000002.10:g.43956010C>T	NCBI36
NG_008884.1:g.41404C>T
NG_008884.2:g.48426C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1710C>T MANE Select	ENSP00000272286.2:p.Phe570=
ENST00000272286.2:c.1710C>T	ENSP00000272286.2:p.Phe570=
NM_022437.2:c.1710C>T	NP_071882.1:p.Phe570=
XM_005264483.2:c.1707C>T	XP_005264540.1:p.Phe569=
XM_011533029.1:c.1722C>T	XP_011531331.1:p.Phe574=
XM_011533030.1:c.1719C>T	XP_011531332.1:p.Phe573=
XM_011533031.1:c.1494C>T	XP_011531333.1:p.Phe498=
XR_939707.1:n.2212C>T
NM_001357321.1:c.1707C>T	NP_001344250.1:p.Phe569=
XM_011533029.2:c.1722C>T	XP_011531331.1:p.Phe574=
XM_011533030.2:c.1719C>T	XP_011531332.1:p.Phe573=
XR_001738891.1:n.2226C>T
XR_939707.2:n.2226C>T
NM_022437.3:c.1710C>T MANE Select	NP_071882.1:p.Phe570=
NM_001357321.2:c.1707C>T	NP_001344250.1:p.Phe569=