Canonical Allele Identifier: CA341291367
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1015488
ClinVar RCV Id: RCV001314356
dbSNP Id: rs1385693763
gnomAD v2: 1-94506950-T-C
gnomAD v3: 1-94041394-T-C
gnomAD v4: 1-94041394-T-C
MyVariant Identifiers: chr1:g.94506950T>C (hg19) chr1:g.94041394T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041394T>C , CM000663.2:g.94041394T>C GRCh38
NC_000001.10:g.94506950T>C , CM000663.1:g.94506950T>C GRCh37
NC_000001.9:g.94279538T>C NCBI36
NG_009073.1:g.84756A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3337A>G MANE Select ENSP00000359245.3:p.Ile1113Val
ENST00000370225.3:c.3337A>G ENSP00000359245.3:p.Ile1113Val
ENST00000536513.5:c.-64-1305A>G ENSP00000439707.2:n.-64-1305A>G
NM_000350.2:c.3337A>G NP_000341.2:p.Ile1113Val
NM_000350.3:c.3337A>G MANE Select NP_000341.2:p.Ile1113Val
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