Canonical Allele Identifier: CA46474804

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 1784032
• ClinVar RCV Id: RCV002416969 ; RCV003492766
• dbSNP Id: rs969569759
• gnomAD v3: 2-43877885-T-G
• gnomAD v4: 2-43877885-T-G
• MyVariant Identifiers: chr2:g.44105024T>G (hg19) ; chr2:g.43877885T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877885T>G , CM000664.2:g.43877885T>G	GRCh38
NC_000002.11:g.44105024T>G , CM000664.1:g.44105024T>G	GRCh37
NC_000002.10:g.43958528T>G	NCBI36
NG_008884.1:g.43922T>G
NG_008884.2:g.50944T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1994T>G MANE Select	ENSP00000272286.2:p.Ile665Ser
ENST00000272286.2:c.1994T>G	ENSP00000272286.2:p.Ile665Ser
NM_022437.2:c.1994T>G	NP_071882.1:p.Ile665Ser
XM_005264483.2:c.1991T>G	XP_005264540.1:p.Ile664Ser
XM_011533029.1:c.2006T>G	XP_011531331.1:p.Ile669Ser
XM_011533030.1:c.2003T>G	XP_011531332.1:p.Ile668Ser
XM_011533031.1:c.1778T>G	XP_011531333.1:p.Ile593Ser
XR_939707.1:n.2496T>G
NM_001357321.1:c.1991T>G	NP_001344250.1:p.Ile664Ser
XM_011533029.2:c.2006T>G	XP_011531331.1:p.Ile669Ser
XM_011533030.2:c.2003T>G	XP_011531332.1:p.Ile668Ser
XR_001738891.1:n.2510T>G
XR_939707.2:n.2510T>G
NM_022437.3:c.1994T>G MANE Select	NP_071882.1:p.Ile665Ser
NM_001357321.2:c.1991T>G	NP_001344250.1:p.Ile664Ser