Canonical Allele Identifier: CA341286466
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs543127423
gnomAD v4: 1-94031107-G-A
MyVariant Identifiers: chr1:g.94496663G>A (hg19) chr1:g.94031107G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031107G>A , CM000663.2:g.94031107G>A GRCh38
NC_000001.10:g.94496663G>A , CM000663.1:g.94496663G>A GRCh37
NC_000001.9:g.94269251G>A NCBI36
NG_009073.1:g.95043C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4142C>T MANE Select ENSP00000359245.3:p.Ala1381Val
ENST00000370225.3:c.4142C>T ENSP00000359245.3:p.Ala1381Val
ENST00000536513.5:c.518C>T ENSP00000439707.2:p.Ala173Val
NM_000350.2:c.4142C>T NP_000341.2:p.Ala1381Val
NM_000350.3:c.4142C>T MANE Select NP_000341.2:p.Ala1381Val
Search 100 bp 5'
Search 100 bp 3'