Canonical Allele Identifier: CA957499
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs768843191
ExAC: 1:94487452 C / G
gnomAD v2: 1-94487452-C-G
gnomAD v4: 1-94021896-C-G
MyVariant Identifiers: chr1:g.94487452C>G (hg19) chr1:g.94021896C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021896C>G , CM000663.2:g.94021896C>G GRCh38
NC_000001.10:g.94487452C>G , CM000663.1:g.94487452C>G GRCh37
NC_000001.9:g.94260040C>G NCBI36
NG_009073.1:g.104254G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4723G>C MANE Select ENSP00000359245.3:p.Ala1575Pro
ENST00000370225.3:c.4723G>C ENSP00000359245.3:p.Ala1575Pro
ENST00000460514.1:n.217G>C
ENST00000536513.5:c.1099G>C ENSP00000439707.2:p.Ala367Pro
NM_000350.2:c.4723G>C NP_000341.2:p.Ala1575Pro
NM_000350.3:c.4723G>C MANE Select NP_000341.2:p.Ala1575Pro
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