Canonical Allele Identifier: CA418824996
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94030511-G-C
MyVariant Identifiers: chr1:g.94496067G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030511G>C , CM000663.2:g.94030511G>C GRCh38
NC_000001.10:g.94496067G>C , CM000663.1:g.94496067G>C GRCh37
NC_000001.9:g.94268655G>C NCBI36
NG_009073.1:g.95639C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4269C>G MANE Select ENSP00000359245.3:p.Gly1423=
ENST00000370225.3:c.4269C>G ENSP00000359245.3:p.Gly1423=
ENST00000536513.5:c.645C>G ENSP00000439707.2:p.Gly215=
NM_000350.2:c.4269C>G NP_000341.2:p.Gly1423=
NM_000350.3:c.4269C>G MANE Select NP_000341.2:p.Gly1423=
Search 100 bp 5'
Search 100 bp 3'