Canonical Allele Identifier: CA958351
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1903302
ClinVar RCV Id: RCV002573002
dbSNP Id: rs147051178
ExAC: 1:94526131 T / C
gnomAD v2: 1-94526131-T-C
gnomAD v3: 1-94060575-T-C
gnomAD v4: 1-94060575-T-C
MyVariant Identifiers: chr1:g.94526131T>C (hg19) chr1:g.94060575T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060575T>C , CM000663.2:g.94060575T>C GRCh38
NC_000001.10:g.94526131T>C , CM000663.1:g.94526131T>C GRCh37
NC_000001.9:g.94298719T>C NCBI36
NG_009073.1:g.65575A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2122A>G MANE Select ENSP00000359245.3:p.Met708Val
ENST00000649773.1:c.2122A>G ENSP00000496882.1:p.Met708Val
ENST00000370225.3:c.2122A>G ENSP00000359245.3:p.Met708Val
ENST00000472033.1:n.242A>G
ENST00000536513.5:c.-65+2599A>G ENSP00000439707.2:n.-65+2599A>G
NM_000350.2:c.2122A>G NP_000341.2:p.Met708Val
NM_000350.3:c.2122A>G MANE Select NP_000341.2:p.Met708Val
Search 100 bp 5'
Search 100 bp 3'