Canonical Allele Identifier: CA524386441
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1489312214
gnomAD v2: 1-94527895-T-G
gnomAD v3: 1-94062339-T-G
gnomAD v4: 1-94062339-T-G
MyVariant Identifiers: chr1:g.94527895T>G (hg19) chr1:g.94062339T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062339T>G , CM000663.2:g.94062339T>G GRCh38
NC_000001.10:g.94527895T>G , CM000663.1:g.94527895T>G GRCh37
NC_000001.9:g.94300483T>G NCBI36
NG_009073.1:g.63811A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1937+238A>C MANE Select ENSP00000359245.3:n.1937+238A>C
ENST00000649773.1:c.1937+238A>C ENSP00000496882.1:n.1937+238A>C
ENST00000370225.3:c.1937+238A>C ENSP00000359245.3:n.1937+238A>C
ENST00000536513.5:c.-65+835A>C ENSP00000439707.2:n.-65+835A>C
NM_000350.2:c.1937+238A>C NP_000341.2:n.1937+238A>C
NM_000350.3:c.1937+238A>C MANE Select NP_000341.2:n.1937+238A>C
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