Canonical Allele Identifier: CA253361

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 4968
• ClinVar RCV Id: RCV000005256 ; RCV000726168 ; RCV000993692 ; RCV002408452 ; RCV003407278
• dbSNP Id: rs137852988
• ExAC: 2:44102516 G / A
• gnomAD v2: 2-44102516-G-A
• gnomAD v3: 2-43875377-G-A
• gnomAD v4: 2-43875377-G-A
• MyVariant Identifiers: chr2:g.44102516G>A (hg19) ; chr2:g.43875377G>A (hg38)
• PubMed: PMID:3706300 ; PMID:6110091 ; PMID:11099417 ; PMID:11264985 ; PMID:15054092 ; PMID:15996216 ; PMID:23241408 ; PMID:23891399 ; PMID:25073796 ; PMID:27144356

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875377G>A , CM000664.2:g.43875377G>A	GRCh38
NC_000002.11:g.44102516G>A , CM000664.1:g.44102516G>A	GRCh37
NC_000002.10:g.43956020G>A	NCBI36
NG_008884.1:g.41414G>A
NG_008884.2:g.48436G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1720G>A MANE Select	ENSP00000272286.2:p.Gly574Arg
ENST00000272286.2:c.1720G>A	ENSP00000272286.2:p.Gly574Arg
NM_022437.2:c.1720G>A	NP_071882.1:p.Gly574Arg
XM_005264483.2:c.1717G>A	XP_005264540.1:p.Gly573Arg
XM_011533029.1:c.1732G>A	XP_011531331.1:p.Gly578Arg
XM_011533030.1:c.1729G>A	XP_011531332.1:p.Gly577Arg
XM_011533031.1:c.1504G>A	XP_011531333.1:p.Gly502Arg
XR_939707.1:n.2222G>A
NM_001357321.1:c.1717G>A	NP_001344250.1:p.Gly573Arg
XM_011533029.2:c.1732G>A	XP_011531331.1:p.Gly578Arg
XM_011533030.2:c.1729G>A	XP_011531332.1:p.Gly577Arg
XR_001738891.1:n.2236G>A
XR_939707.2:n.2236G>A
NM_022437.3:c.1720G>A MANE Select	NP_071882.1:p.Gly574Arg
NM_001357321.2:c.1717G>A	NP_001344250.1:p.Gly573Arg