Canonical Allele Identifier: CA418819231
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1404675330
gnomAD v2: 1-94522364-T-C
gnomAD v4: 1-94056808-T-C
MyVariant Identifiers: chr1:g.94522364T>C (hg19) chr1:g.94056808T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056808T>C , CM000663.2:g.94056808T>C GRCh38
NC_000001.10:g.94522364T>C , CM000663.1:g.94522364T>C GRCh37
NC_000001.9:g.94294952T>C NCBI36
NG_009073.1:g.69342A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2175A>G MANE Select ENSP00000359245.3:p.Leu725=
ENST00000649773.1:c.2161-1493A>G ENSP00000496882.1:n.2161-1493A>G
ENST00000370225.3:c.2175A>G ENSP00000359245.3:p.Leu725=
ENST00000536513.5:c.-65+6366A>G ENSP00000439707.2:n.-65+6366A>G
NM_000350.2:c.2175A>G NP_000341.2:p.Leu725=
NM_000350.3:c.2175A>G MANE Select NP_000341.2:p.Leu725=
Search 100 bp 5'
Search 100 bp 3'