Canonical Allele Identifier: CA1637574

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 281519
• ClinVar RCV Id: RCV000331475 ; RCV000365326 ; RCV001421565 ; RCV004021079 ; RCV003977731
• dbSNP Id: rs140690030
• ExAC: 2:44102441 G / A
• gnomAD v2: 2-44102441-G-A
• gnomAD v3: 2-43875302-G-A
• gnomAD v4: 2-43875302-G-A
• MyVariant Identifiers: chr2:g.44102441G>A (hg19) ; chr2:g.43875302G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875302G>A , CM000664.2:g.43875302G>A	GRCh38
NC_000002.11:g.44102441G>A , CM000664.1:g.44102441G>A	GRCh37
NC_000002.10:g.43955945G>A	NCBI36
NG_008884.1:g.41339G>A
NG_008884.2:g.48361G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1645G>A MANE Select	ENSP00000272286.2:p.Ala549Thr
ENST00000272286.2:c.1645G>A	ENSP00000272286.2:p.Ala549Thr
NM_022437.2:c.1645G>A	NP_071882.1:p.Ala549Thr
XM_005264483.2:c.1642G>A	XP_005264540.1:p.Ala548Thr
XM_011533029.1:c.1657G>A	XP_011531331.1:p.Ala553Thr
XM_011533030.1:c.1654G>A	XP_011531332.1:p.Ala552Thr
XM_011533031.1:c.1429G>A	XP_011531333.1:p.Ala477Thr
XR_939707.1:n.2147G>A
NM_001357321.1:c.1642G>A	NP_001344250.1:p.Ala548Thr
XM_011533029.2:c.1657G>A	XP_011531331.1:p.Ala553Thr
XM_011533030.2:c.1654G>A	XP_011531332.1:p.Ala552Thr
XR_001738891.1:n.2161G>A
XR_939707.2:n.2161G>A
NM_022437.3:c.1645G>A MANE Select	NP_071882.1:p.Ala549Thr
NM_001357321.2:c.1642G>A	NP_001344250.1:p.Ala548Thr