Canonical Allele Identifier: CA346671514

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43877882-T-G
• MyVariant Identifiers: chr2:g.44105021T>G (hg19) ; chr2:g.43877882T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877882T>G , CM000664.2:g.43877882T>G	GRCh38
NC_000002.11:g.44105021T>G , CM000664.1:g.44105021T>G	GRCh37
NC_000002.10:g.43958525T>G	NCBI36
NG_008884.1:g.43919T>G
NG_008884.2:g.50941T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1991T>G MANE Select	ENSP00000272286.2:p.Phe664Cys
ENST00000272286.2:c.1991T>G	ENSP00000272286.2:p.Phe664Cys
NM_022437.2:c.1991T>G	NP_071882.1:p.Phe664Cys
XM_005264483.2:c.1988T>G	XP_005264540.1:p.Phe663Cys
XM_011533029.1:c.2003T>G	XP_011531331.1:p.Phe668Cys
XM_011533030.1:c.2000T>G	XP_011531332.1:p.Phe667Cys
XM_011533031.1:c.1775T>G	XP_011531333.1:p.Phe592Cys
XR_939707.1:n.2493T>G
NM_001357321.1:c.1988T>G	NP_001344250.1:p.Phe663Cys
XM_011533029.2:c.2003T>G	XP_011531331.1:p.Phe668Cys
XM_011533030.2:c.2000T>G	XP_011531332.1:p.Phe667Cys
XR_001738891.1:n.2507T>G
XR_939707.2:n.2507T>G
NM_022437.3:c.1991T>G MANE Select	NP_071882.1:p.Phe664Cys
NM_001357321.2:c.1988T>G	NP_001344250.1:p.Phe663Cys