Canonical Allele Identifier: CA341285757
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2750636
ClinVar RCV Id: RCV003563553
MyVariant Identifiers: chr1:g.94496024G>T (hg19) chr1:g.94030468G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030468G>T , CM000663.2:g.94030468G>T GRCh38
NC_000001.10:g.94496024G>T , CM000663.1:g.94496024G>T GRCh37
NC_000001.9:g.94268612G>T NCBI36
NG_009073.1:g.95682C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4312C>A MANE Select ENSP00000359245.3:p.Pro1438Thr
ENST00000370225.3:c.4312C>A ENSP00000359245.3:p.Pro1438Thr
ENST00000536513.5:c.688C>A ENSP00000439707.2:p.Pro230Thr
NM_000350.2:c.4312C>A NP_000341.2:p.Pro1438Thr
NM_000350.3:c.4312C>A MANE Select NP_000341.2:p.Pro1438Thr
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