Canonical Allele Identifier: CA341285769
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 866062
ClinVar RCV Id: RCV001073788 RCV002554678
dbSNP Id: rs1283350532
gnomAD v2: 1-94496027-T-A
MyVariant Identifiers: chr1:g.94496027T>A (hg19) chr1:g.94030471T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030471T>A , CM000663.2:g.94030471T>A GRCh38
NC_000001.10:g.94496027T>A , CM000663.1:g.94496027T>A GRCh37
NC_000001.9:g.94268615T>A NCBI36
NG_009073.1:g.95679A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4309A>T MANE Select ENSP00000359245.3:p.Lys1437Ter
ENST00000370225.3:c.4309A>T ENSP00000359245.3:p.Lys1437Ter
ENST00000536513.5:c.685A>T ENSP00000439707.2:p.Lys229Ter
NM_000350.2:c.4309A>T NP_000341.2:p.Lys1437Ter
NM_000350.3:c.4309A>T MANE Select NP_000341.2:p.Lys1437Ter
Search 100 bp 5'
Search 100 bp 3'