Canonical Allele Identifier: CA740493856
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1255764155
MyVariant Identifiers: chr1:g.94494935C>G (hg19) chr1:g.94029379C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029379C>G , CM000663.2:g.94029379C>G GRCh38
NC_000001.10:g.94494935C>G , CM000663.1:g.94494935C>G GRCh37
NC_000001.9:g.94267523C>G NCBI36
NG_009073.1:g.96771G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4539+66G>C MANE Select ENSP00000359245.3:n.4539+66G>C
ENST00000370225.3:c.4539+66G>C ENSP00000359245.3:n.4539+66G>C
ENST00000536513.5:c.915+66G>C ENSP00000439707.2:n.915+66G>C
NM_000350.2:c.4539+66G>C NP_000341.2:n.4539+66G>C
NM_000350.3:c.4539+66G>C MANE Select NP_000341.2:n.4539+66G>C
Search 100 bp 5'
Search 100 bp 3'