Canonical Allele Identifier: CA203214

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 99454
• ClinVar RCV Id: RCV000085814 ; RCV000179292 ; RCV000269487 ; RCV000315191 ; RCV000369853 ; RCV000369400 ; RCV001098368 ; RCV003888483
• dbSNP Id: rs6657239
• ExAC: 1:94564483 C / T
• gnomAD v2: 1-94564483-C-T
• gnomAD v3: 1-94098927-C-T
• gnomAD v4: 1-94098927-C-T
• MyVariant Identifiers: chr1:g.94564483C>T (hg19) ; chr1:g.94098927C>T (hg38)
• PubMed: PMID:11328725 ; PMID:11857735 ; PMID:15108289

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94098927C>T , CM000663.2:g.94098927C>T	GRCh38
NC_000001.10:g.94564483C>T , CM000663.1:g.94564483C>T	GRCh37
NC_000001.9:g.94337071C>T	NCBI36
NG_009073.1:g.27223G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.635G>A MANE Select	ENSP00000359245.3:p.Arg212His
ENST00000649773.1:c.635G>A	ENSP00000496882.1:p.Arg212His
ENST00000370225.3:c.635G>A	ENSP00000359245.3:p.Arg212His
NM_000350.2:c.635G>A	NP_000341.2:p.Arg212His
NM_000350.3:c.635G>A MANE Select	NP_000341.2:p.Arg212His