Canonical Allele Identifier: CA346670203

Gene: ABCG8

Linked Data

• dbSNP Id: rs1173713517
• gnomAD v4: 2-43875149-C-T
• MyVariant Identifiers: chr2:g.44102288C>T (hg19) ; chr2:g.43875149C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875149C>T , CM000664.2:g.43875149C>T	GRCh38
NC_000002.11:g.44102288C>T , CM000664.1:g.44102288C>T	GRCh37
NC_000002.10:g.43955792C>T	NCBI36
NG_008884.1:g.41186C>T
NG_008884.2:g.48208C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1492C>T MANE Select	ENSP00000272286.2:p.Leu498Phe
ENST00000272286.2:c.1492C>T	ENSP00000272286.2:p.Leu498Phe
NM_022437.2:c.1492C>T	NP_071882.1:p.Leu498Phe
XM_005264483.2:c.1489C>T	XP_005264540.1:p.Leu497Phe
XM_011533029.1:c.1504C>T	XP_011531331.1:p.Leu502Phe
XM_011533030.1:c.1501C>T	XP_011531332.1:p.Leu501Phe
XM_011533031.1:c.1276C>T	XP_011531333.1:p.Leu426Phe
XR_939707.1:n.1994C>T
NM_001357321.1:c.1489C>T	NP_001344250.1:p.Leu497Phe
XM_011533029.2:c.1504C>T	XP_011531331.1:p.Leu502Phe
XM_011533030.2:c.1501C>T	XP_011531332.1:p.Leu501Phe
XR_001738891.1:n.2008C>T
XR_939707.2:n.2008C>T
NM_022437.3:c.1492C>T MANE Select	NP_071882.1:p.Leu498Phe
NM_001357321.2:c.1489C>T	NP_001344250.1:p.Leu497Phe