Canonical Allele Identifier: CA226886
Gene: ABCA4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.94078611G>C
GRCh37 chr1:g.94544167G>C
Revel Score:
ENST00000370225 (MANE Select) 0.824
ENST00000535735 0.824
gnomAD v2:
1:94544167 G / C
gnomAD v3:
1:94078611 G / C
gnomAD v4:
chr1-94078611-G-C
Joint Max Group AF 0.00003166 (NFE)
Exomes Max Group AF 0.00003272 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94078611G>C , CM000663.2:g.94078611G>C GRCh38
NC_000001.10:g.94544167G>C , CM000663.1:g.94544167G>C GRCh37
NC_000001.9:g.94316755G>C NCBI36
NG_009073.1:g.47539C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1335C>G MANE Select ENSP00000359245.3:p.Ser445Arg
ENST00000649773.1:c.1335C>G ENSP00000496882.1:p.Ser445Arg
ENST00000370225.3:c.1335C>G ENSP00000359245.3:p.Ser445Arg
NM_000350.2:c.1335C>G NP_000341.2:p.Ser445Arg
NM_000350.3:c.1335C>G MANE Select NP_000341.2:p.Ser445Arg
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