Canonical Allele Identifier: CA26844692
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs938343312
gnomAD v2: 1-94486642-A-C
gnomAD v3: 1-94021086-A-C
gnomAD v4: 1-94021086-A-C
MyVariant Identifiers: chr1:g.94486642A>C (hg19) chr1:g.94021086A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021086A>C , CM000663.2:g.94021086A>C GRCh38
NC_000001.10:g.94486642A>C , CM000663.1:g.94486642A>C GRCh37
NC_000001.9:g.94259230A>C NCBI36
NG_009073.1:g.105064T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5018+154T>G MANE Select ENSP00000359245.3:n.5018+154T>G
ENST00000370225.3:c.5018+154T>G ENSP00000359245.3:n.5018+154T>G
ENST00000460514.1:n.512+154T>G
ENST00000470771.1:n.128+154T>G
ENST00000536513.5:c.1394+154T>G ENSP00000439707.2:n.1394+154T>G
NM_000350.2:c.5018+154T>G NP_000341.2:n.5018+154T>G
NM_000350.3:c.5018+154T>G MANE Select NP_000341.2:n.5018+154T>G
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