Canonical Allele Identifier: CA957410
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs545405733
ExAC: 1:94486798 T / C
gnomAD v2: 1-94486798-T-C
gnomAD v3: 1-94021242-T-C
gnomAD v4: 1-94021242-T-C
MyVariant Identifiers: chr1:g.94486798T>C (hg19) chr1:g.94021242T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021242T>C , CM000663.2:g.94021242T>C GRCh38
NC_000001.10:g.94486798T>C , CM000663.1:g.94486798T>C GRCh37
NC_000001.9:g.94259386T>C NCBI36
NG_009073.1:g.104908A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5016A>G MANE Select ENSP00000359245.3:p.Thr1672=
ENST00000370225.3:c.5016A>G ENSP00000359245.3:p.Thr1672=
ENST00000460514.1:n.510A>G
ENST00000470771.1:n.126A>G
ENST00000536513.5:c.1392A>G ENSP00000439707.2:p.Thr464=
NM_000350.2:c.5016A>G NP_000341.2:p.Thr1672=
NM_000350.3:c.5016A>G MANE Select NP_000341.2:p.Thr1672=
Search 100 bp 5'
Search 100 bp 3'