Canonical Allele Identifier: CA418826729
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 874846
dbSNP Id: rs778400379
gnomAD v3: 1-94043430-T-C
gnomAD v4: 1-94043430-T-C
MyVariant Identifiers: chr1:g.94508986T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043430T>C , CM000663.2:g.94043430T>C GRCh38
NC_000001.10:g.94508986T>C , CM000663.1:g.94508986T>C GRCh37
NC_000001.9:g.94281574T>C NCBI36
NG_009073.1:g.82720A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3096A>G MANE Select ENSP00000359245.3:p.Gly1032=
ENST00000370225.3:c.3096A>G ENSP00000359245.3:p.Gly1032=
ENST00000536513.5:c.-64-3341A>G ENSP00000439707.2:n.-64-3341A>G
NM_000350.2:c.3096A>G NP_000341.2:p.Gly1032=
NM_000350.3:c.3096A>G MANE Select NP_000341.2:p.Gly1032=