Canonical Allele Identifier: CA1637571

Gene: ABCG8

Linked Data

• dbSNP Id: rs201258947
• ExAC: 2:44102439 C / A
• gnomAD v2: 2-44102439-C-A
• gnomAD v3: 2-43875300-C-A
• gnomAD v4: 2-43875300-C-A
• MyVariant Identifiers: chr2:g.44102439C>A (hg19) ; chr2:g.43875300C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875300C>A , CM000664.2:g.43875300C>A	GRCh38
NC_000002.11:g.44102439C>A , CM000664.1:g.44102439C>A	GRCh37
NC_000002.10:g.43955943C>A	NCBI36
NG_008884.1:g.41337C>A
NG_008884.2:g.48359C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1643C>A MANE Select	ENSP00000272286.2:p.Ala548Asp
ENST00000272286.2:c.1643C>A	ENSP00000272286.2:p.Ala548Asp
NM_022437.2:c.1643C>A	NP_071882.1:p.Ala548Asp
XM_005264483.2:c.1640C>A	XP_005264540.1:p.Ala547Asp
XM_011533029.1:c.1655C>A	XP_011531331.1:p.Ala552Asp
XM_011533030.1:c.1652C>A	XP_011531332.1:p.Ala551Asp
XM_011533031.1:c.1427C>A	XP_011531333.1:p.Ala476Asp
XR_939707.1:n.2145C>A
NM_001357321.1:c.1640C>A	NP_001344250.1:p.Ala547Asp
XM_011533029.2:c.1655C>A	XP_011531331.1:p.Ala552Asp
XM_011533030.2:c.1652C>A	XP_011531332.1:p.Ala551Asp
XR_001738891.1:n.2159C>A
XR_939707.2:n.2159C>A
NM_022437.3:c.1643C>A MANE Select	NP_071882.1:p.Ala548Asp
NM_001357321.2:c.1640C>A	NP_001344250.1:p.Ala547Asp