Canonical Allele Identifier: CA10611704

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 298231
• ClinVar RCV Id: RCV000283357 ; RCV000289750 ; RCV000342279 ; RCV000393464 ; RCV001101749 ; RCV001812786
• dbSNP Id: rs886046563
• gnomAD v2: 1-94486869-G-A
• gnomAD v3: 1-94021313-G-A
• gnomAD v4: 1-94021313-G-A
• MyVariant Identifiers: chr1:g.94486869G>A (hg19) ; chr1:g.94021313G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021313G>A , CM000663.2:g.94021313G>A	GRCh38
NC_000001.10:g.94486869G>A , CM000663.1:g.94486869G>A	GRCh37
NC_000001.9:g.94259457G>A	NCBI36
NG_009073.1:g.104837C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4945C>T MANE Select	ENSP00000359245.3:p.Pro1649Ser
ENST00000370225.3:c.4945C>T	ENSP00000359245.3:p.Pro1649Ser
ENST00000460514.1:n.439C>T
ENST00000470771.1:n.55C>T
ENST00000536513.5:c.1321C>T	ENSP00000439707.2:p.Pro441Ser
NM_000350.2:c.4945C>T	NP_000341.2:p.Pro1649Ser
NM_000350.3:c.4945C>T MANE Select	NP_000341.2:p.Pro1649Ser