Canonical Allele Identifier: CA957443
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1081454
ClinVar RCV Id: RCV001397413
dbSNP Id: rs765388373
ExAC: 1:94486981 G / A
gnomAD v2: 1-94486981-G-A
gnomAD v3: 1-94021425-G-A
gnomAD v4: 1-94021425-G-A
MyVariant Identifiers: chr1:g.94486981G>A (hg19) chr1:g.94021425G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021425G>A , CM000663.2:g.94021425G>A GRCh38
NC_000001.10:g.94486981G>A , CM000663.1:g.94486981G>A GRCh37
NC_000001.9:g.94259569G>A NCBI36
NG_009073.1:g.104725C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4849-16C>T MANE Select ENSP00000359245.3:n.4849-16C>T
ENST00000370225.3:c.4849-16C>T ENSP00000359245.3:n.4849-16C>T
ENST00000460514.1:n.343-16C>T
ENST00000536513.5:c.1225-16C>T ENSP00000439707.2:n.1225-16C>T
NM_000350.2:c.4849-16C>T NP_000341.2:n.4849-16C>T
NM_000350.3:c.4849-16C>T MANE Select NP_000341.2:n.4849-16C>T
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