Canonical Allele Identifier: CA418810768
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94001016-G-C
MyVariant Identifiers: chr1:g.94466572G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001016G>C , CM000663.2:g.94001016G>C GRCh38
NC_000001.10:g.94466572G>C , CM000663.1:g.94466572G>C GRCh37
NC_000001.9:g.94239160G>C NCBI36
NG_009073.1:g.125134C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6372C>G MANE Select ENSP00000359245.3:p.Val2124=
ENST00000370225.3:c.6372C>G ENSP00000359245.3:p.Val2124=
ENST00000536513.5:c.2748C>G ENSP00000439707.2:p.Val916=
NM_000350.2:c.6372C>G NP_000341.2:p.Val2124=
NM_000350.3:c.6372C>G MANE Select NP_000341.2:p.Val2124=
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