Canonical Allele Identifier: CA341284826
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1365368443
gnomAD v2: 1-94495036-A-T
gnomAD v3: 1-94029480-A-T
gnomAD v4: 1-94029480-A-T
MyVariant Identifiers: chr1:g.94495036A>T (hg19) chr1:g.94029480A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029480A>T , CM000663.2:g.94029480A>T GRCh38
NC_000001.10:g.94495036A>T , CM000663.1:g.94495036A>T GRCh37
NC_000001.9:g.94267624A>T NCBI36
NG_009073.1:g.96670T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4504T>A MANE Select ENSP00000359245.3:p.Cys1502Ser
ENST00000370225.3:c.4504T>A ENSP00000359245.3:p.Cys1502Ser
ENST00000536513.5:c.880T>A ENSP00000439707.2:p.Cys294Ser
NM_000350.2:c.4504T>A NP_000341.2:p.Cys1502Ser
NM_000350.3:c.4504T>A MANE Select NP_000341.2:p.Cys1502Ser
Search 100 bp 5'
Search 100 bp 3'