Canonical Allele Identifier: CA26848205
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 874899
ClinVar RCV Id: RCV001098280 RCV002556003
dbSNP Id: rs201059645
gnomAD v3: 1-94062693-C-T
gnomAD v4: 1-94062693-C-T
MyVariant Identifiers: chr1:g.94528249C>T (hg19) chr1:g.94062693C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062693C>T , CM000663.2:g.94062693C>T GRCh38
NC_000001.10:g.94528249C>T , CM000663.1:g.94528249C>T GRCh37
NC_000001.9:g.94300837C>T NCBI36
NG_009073.1:g.63457G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1821G>A MANE Select ENSP00000359245.3:p.Gly607=
ENST00000649773.1:c.1821G>A ENSP00000496882.1:p.Gly607=
ENST00000370225.3:c.1821G>A ENSP00000359245.3:p.Gly607=
ENST00000536513.5:c.-65+481G>A ENSP00000439707.2:n.-65+481G>A
NM_000350.2:c.1821G>A NP_000341.2:p.Gly607=
NM_000350.3:c.1821G>A MANE Select NP_000341.2:p.Gly607=
Search 100 bp 5'
Search 100 bp 3'