Canonical Allele Identifier: CA341277622
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2202780
ClinVar RCV Id: RCV002664166
dbSNP Id: rs1166357291
gnomAD v3: 1-94001099-G-A
gnomAD v4: 1-94001099-G-A
MyVariant Identifiers: chr1:g.94466655G>A (hg19) chr1:g.94001099G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001099G>A , CM000663.2:g.94001099G>A GRCh38
NC_000001.10:g.94466655G>A , CM000663.1:g.94466655G>A GRCh37
NC_000001.9:g.94239243G>A NCBI36
NG_009073.1:g.125051C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6289C>T MANE Select ENSP00000359245.3:p.Pro2097Ser
ENST00000370225.3:c.6289C>T ENSP00000359245.3:p.Pro2097Ser
ENST00000536513.5:c.2665C>T ENSP00000439707.2:p.Pro889Ser
NM_000350.2:c.6289C>T NP_000341.2:p.Pro2097Ser
NM_000350.3:c.6289C>T MANE Select NP_000341.2:p.Pro2097Ser
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