Canonical Allele Identifier: CA341284038
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1351617
ClinVar RCV Id: RCV002044860
dbSNP Id: rs1360967221
gnomAD v2: 1-94487491-T-C
gnomAD v3: 1-94021935-T-C
gnomAD v4: 1-94021935-T-C
MyVariant Identifiers: chr1:g.94487491T>C (hg19) chr1:g.94021935T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021935T>C , CM000663.2:g.94021935T>C GRCh38
NC_000001.10:g.94487491T>C , CM000663.1:g.94487491T>C GRCh37
NC_000001.9:g.94260079T>C NCBI36
NG_009073.1:g.104215A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4684A>G MANE Select ENSP00000359245.3:p.Ile1562Val
ENST00000370225.3:c.4684A>G ENSP00000359245.3:p.Ile1562Val
ENST00000460514.1:n.178A>G
ENST00000536513.5:c.1060A>G ENSP00000439707.2:p.Ile354Val
NM_000350.2:c.4684A>G NP_000341.2:p.Ile1562Val
NM_000350.3:c.4684A>G MANE Select NP_000341.2:p.Ile1562Val
Search 100 bp 5'
Search 100 bp 3'