Canonical Allele Identifier: CA226968
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94121045T>C
GRCh37 chr1:g.94586601T>C
Revel Score:
ENST00000370225 (MANE Select) 0.486
ENST00000535735 0.486
gnomAD v2:
1:94586601 T / C
gnomAD v3:
1:94121045 T / C
gnomAD v4:
chr1-94121045-T-C
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94121045T>C , CM000663.2:g.94121045T>C GRCh38
NC_000001.10:g.94586601T>C , CM000663.1:g.94586601T>C GRCh37
NC_000001.9:g.94359189T>C NCBI36
NG_009073.1:g.5105A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1A>G MANE Select ENSP00000359245.3:p.Met1Val
ENST00000649773.1:c.1A>G ENSP00000496882.1:p.Met1Val
ENST00000370225.3:c.1A>G ENSP00000359245.3:p.Met1Val
NM_000350.2:c.1A>G NP_000341.2:p.Met1Val
NM_000350.3:c.1A>G MANE Select NP_000341.2:p.Met1Val
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