Canonical Allele Identifier: CA957678
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs758134570
ExAC: 1:94496537 C / A
gnomAD v2: 1-94496537-C-A
gnomAD v4: 1-94030981-C-A
MyVariant Identifiers: chr1:g.94496537C>A (hg19) chr1:g.94030981C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030981C>A , CM000663.2:g.94030981C>A GRCh38
NC_000001.10:g.94496537C>A , CM000663.1:g.94496537C>A GRCh37
NC_000001.9:g.94269125C>A NCBI36
NG_009073.1:g.95169G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4253+15G>T MANE Select ENSP00000359245.3:n.4253+15G>T
ENST00000370225.3:c.4253+15G>T ENSP00000359245.3:n.4253+15G>T
ENST00000536513.5:c.629+15G>T ENSP00000439707.2:n.629+15G>T
NM_000350.2:c.4253+15G>T NP_000341.2:n.4253+15G>T
NM_000350.3:c.4253+15G>T MANE Select NP_000341.2:n.4253+15G>T
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