Canonical Allele Identifier: CA524385081
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1177784699
gnomAD v2: 1-94517290-G-A
gnomAD v3: 1-94051734-G-A
gnomAD v4: 1-94051734-G-A
MyVariant Identifiers: chr1:g.94517290G>A (hg19) chr1:g.94051734G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94051734G>A , CM000663.2:g.94051734G>A GRCh38
NC_000001.10:g.94517290G>A , CM000663.1:g.94517290G>A GRCh37
NC_000001.9:g.94289878G>A NCBI36
NG_009073.1:g.74416C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2588-36C>T MANE Select ENSP00000359245.3:n.2588-36C>T
ENST00000649773.1:c.2366-36C>T ENSP00000496882.1:n.2366-36C>T
ENST00000370225.3:c.2588-36C>T ENSP00000359245.3:n.2588-36C>T
ENST00000536513.5:c.-65+11440C>T ENSP00000439707.2:n.-65+11440C>T
NM_000350.2:c.2588-36C>T NP_000341.2:n.2588-36C>T
NM_000350.3:c.2588-36C>T MANE Select NP_000341.2:n.2588-36C>T
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