Canonical Allele Identifier: CA1637726

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 288467
• ClinVar RCV Id: RCV000340091 ; RCV000395773 ; RCV001270619 ; RCV002411167 ; RCV003897633
• dbSNP Id: rs113005049
• ExAC: 2:44104954 G / A
• gnomAD v2: 2-44104954-G-A
• gnomAD v3: 2-43877815-G-A
• gnomAD v4: 2-43877815-G-A
• MyVariant Identifiers: chr2:g.44104954G>A (hg19) ; chr2:g.43877815G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877815G>A , CM000664.2:g.43877815G>A	GRCh38
NC_000002.11:g.44104954G>A , CM000664.1:g.44104954G>A	GRCh37
NC_000002.10:g.43958458G>A	NCBI36
NG_008884.1:g.43852G>A
NG_008884.2:g.50874G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1924G>A MANE Select	ENSP00000272286.2:p.Ala642Thr
ENST00000272286.2:c.1924G>A	ENSP00000272286.2:p.Ala642Thr
NM_022437.2:c.1924G>A	NP_071882.1:p.Ala642Thr
XM_005264483.2:c.1921G>A	XP_005264540.1:p.Ala641Thr
XM_011533029.1:c.1936G>A	XP_011531331.1:p.Ala646Thr
XM_011533030.1:c.1933G>A	XP_011531332.1:p.Ala645Thr
XM_011533031.1:c.1708G>A	XP_011531333.1:p.Ala570Thr
XR_939707.1:n.2426G>A
NM_001357321.1:c.1921G>A	NP_001344250.1:p.Ala641Thr
XM_011533029.2:c.1936G>A	XP_011531331.1:p.Ala646Thr
XM_011533030.2:c.1933G>A	XP_011531332.1:p.Ala645Thr
XR_001738891.1:n.2440G>A
XR_939707.2:n.2440G>A
NM_022437.3:c.1924G>A MANE Select	NP_071882.1:p.Ala642Thr
NM_001357321.2:c.1921G>A	NP_001344250.1:p.Ala641Thr