Canonical Allele Identifier: CA418826361
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2749923
ClinVar RCV Id: RCV003568692
gnomAD v4: 1-94041395-G-C
MyVariant Identifiers: chr1:g.94506951G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041395G>C , CM000663.2:g.94041395G>C GRCh38
NC_000001.10:g.94506951G>C , CM000663.1:g.94506951G>C GRCh37
NC_000001.9:g.94279539G>C NCBI36
NG_009073.1:g.84755C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3336C>G MANE Select ENSP00000359245.3:p.Thr1112=
ENST00000370225.3:c.3336C>G ENSP00000359245.3:p.Thr1112=
ENST00000536513.5:c.-64-1306C>G ENSP00000439707.2:n.-64-1306C>G
NM_000350.2:c.3336C>G NP_000341.2:p.Thr1112=
NM_000350.3:c.3336C>G MANE Select NP_000341.2:p.Thr1112=
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