Canonical Allele Identifier: CA10844125
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1275442
ClinVar RCV Id: RCV001682321
dbSNP Id: rs1889405
gnomAD v2: 1-94577410-C-T
gnomAD v3: 1-94111854-C-T
gnomAD v4: 1-94111854-C-T
MyVariant Identifiers: chr1:g.94577410C>T (hg19) chr1:g.94111854C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111854C>T , CM000663.2:g.94111854C>T GRCh38
NC_000001.10:g.94577410C>T , CM000663.1:g.94577410C>T GRCh37
NC_000001.9:g.94349998C>T NCBI36
NG_009073.1:g.14296G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.161-275G>A MANE Select ENSP00000359245.3:n.161-275G>A
ENST00000649773.1:c.161-275G>A ENSP00000496882.1:n.161-275G>A
ENST00000370225.3:c.161-275G>A ENSP00000359245.3:n.161-275G>A
NM_000350.2:c.161-275G>A NP_000341.2:n.161-275G>A
NM_000350.3:c.161-275G>A MANE Select NP_000341.2:n.161-275G>A
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