Canonical Allele Identifier: CA26855410
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1515849
ClinVar RCV Id: RCV002023500
dbSNP Id: rs981447805
gnomAD v2: 1-94497437-G-A
gnomAD v3: 1-94031881-G-A
gnomAD v4: 1-94031881-G-A
COSMIC: COSM145036
MyVariant Identifiers: chr1:g.94497437G>A (hg19) chr1:g.94031881G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031881G>A , CM000663.2:g.94031881G>A GRCh38
NC_000001.10:g.94497437G>A , CM000663.1:g.94497437G>A GRCh37
NC_000001.9:g.94270025G>A NCBI36
NG_009073.1:g.94269C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4025C>T MANE Select ENSP00000359245.3:p.Pro1342Leu
ENST00000370225.3:c.4025C>T ENSP00000359245.3:p.Pro1342Leu
ENST00000536513.5:c.401C>T ENSP00000439707.2:p.Pro134Leu
NM_000350.2:c.4025C>T NP_000341.2:p.Pro1342Leu
NM_000350.3:c.4025C>T MANE Select NP_000341.2:p.Pro1342Leu
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Search 100 bp 3'