Canonical Allele Identifier: CA524697419
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1450390663
gnomAD v2: 1-94494957-T-C
gnomAD v3: 1-94029401-T-C
gnomAD v4: 1-94029401-T-C
MyVariant Identifiers: chr1:g.94494957T>C (hg19) chr1:g.94029401T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029401T>C , CM000663.2:g.94029401T>C GRCh38
NC_000001.10:g.94494957T>C , CM000663.1:g.94494957T>C GRCh37
NC_000001.9:g.94267545T>C NCBI36
NG_009073.1:g.96749A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4539+44A>G MANE Select ENSP00000359245.3:n.4539+44A>G
ENST00000370225.3:c.4539+44A>G ENSP00000359245.3:n.4539+44A>G
ENST00000536513.5:c.915+44A>G ENSP00000439707.2:n.915+44A>G
NM_000350.2:c.4539+44A>G NP_000341.2:n.4539+44A>G
NM_000350.3:c.4539+44A>G MANE Select NP_000341.2:n.4539+44A>G
Search 100 bp 5'
Search 100 bp 3'