Canonical Allele Identifier: CA524697353
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1193395757
gnomAD v2: 1-94476772-C-G
gnomAD v4: 1-94011216-C-G
MyVariant Identifiers: chr1:g.94476772C>G (hg19) chr1:g.94011216C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011216C>G , CM000663.2:g.94011216C>G GRCh38
NC_000001.10:g.94476772C>G , CM000663.1:g.94476772C>G GRCh37
NC_000001.9:g.94249360C>G NCBI36
NG_009073.1:g.114934G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5584+46G>C MANE Select ENSP00000359245.3:n.5584+46G>C
ENST00000370225.3:c.5584+46G>C ENSP00000359245.3:n.5584+46G>C
ENST00000536513.5:c.1960+46G>C ENSP00000439707.2:n.1960+46G>C
NM_000350.2:c.5584+46G>C NP_000341.2:n.5584+46G>C
NM_000350.3:c.5584+46G>C MANE Select NP_000341.2:n.5584+46G>C
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