Canonical Allele Identifier: CA10611712
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 298237
ClinVar RCV Id: RCV000263027 RCV000315841 RCV000321629 RCV000374011 RCV001096335 RCV002520511
dbSNP Id: rs886046564
gnomAD v4: 1-94029452-G-A
MyVariant Identifiers: chr1:g.94495008G>A (hg19) chr1:g.94029452G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029452G>A , CM000663.2:g.94029452G>A GRCh38
NC_000001.10:g.94495008G>A , CM000663.1:g.94495008G>A GRCh37
NC_000001.9:g.94267596G>A NCBI36
NG_009073.1:g.96698C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4532C>T MANE Select ENSP00000359245.3:p.Pro1511Leu
ENST00000370225.3:c.4532C>T ENSP00000359245.3:p.Pro1511Leu
ENST00000536513.5:c.908C>T ENSP00000439707.2:p.Pro303Leu
NM_000350.2:c.4532C>T NP_000341.2:p.Pro1511Leu
NM_000350.3:c.4532C>T MANE Select NP_000341.2:p.Pro1511Leu
Search 100 bp 5'
Search 100 bp 3'