Canonical Allele Identifier: CA341285761
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94030469-C-G
MyVariant Identifiers: chr1:g.94496025C>G (hg19) chr1:g.94030469C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030469C>G , CM000663.2:g.94030469C>G GRCh38
NC_000001.10:g.94496025C>G , CM000663.1:g.94496025C>G GRCh37
NC_000001.9:g.94268613C>G NCBI36
NG_009073.1:g.95681G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4311G>C MANE Select ENSP00000359245.3:p.Lys1437Asn
ENST00000370225.3:c.4311G>C ENSP00000359245.3:p.Lys1437Asn
ENST00000536513.5:c.687G>C ENSP00000439707.2:p.Lys229Asn
NM_000350.2:c.4311G>C NP_000341.2:p.Lys1437Asn
NM_000350.3:c.4311G>C MANE Select NP_000341.2:p.Lys1437Asn
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