Canonical Allele Identifier: CA10602457

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 236071
• ClinVar RCV Id: RCV000408466 ; RCV002485454
• dbSNP Id: rs886044720
• MyVariant Identifiers: chr1:g.94578529A>C (hg19) ; chr1:g.94112973A>C (hg38)
• PubMed: PMID:15108289 ; PMID:28118664

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94112973A>C , CM000663.2:g.94112973A>C	GRCh38
NC_000001.10:g.94578529A>C , CM000663.1:g.94578529A>C	GRCh37
NC_000001.9:g.94351117A>C	NCBI36
NG_009073.1:g.13177T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.160T>G MANE Select	ENSP00000359245.3:p.Cys54Gly
ENST00000649773.1:c.160T>G	ENSP00000496882.1:p.Cys54Gly
ENST00000370225.3:c.160T>G	ENSP00000359245.3:p.Cys54Gly
NM_000350.2:c.160T>G	NP_000341.2:p.Cys54Gly
NM_000350.3:c.160T>G MANE Select	NP_000341.2:p.Cys54Gly