Canonical Allele Identifier: CA6515441
Gene: MUC19 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.40441116C>T
GRCh37 chr12:g.40834918C>T
Revel Score:
ENST00000425730 0.293
gnomAD v2:
12:40834918 C / T
gnomAD v3:
12:40441116 C / T
gnomAD v4:
chr12-40441116-C-T
Joint Max Group AF 0.15373699 (NFE)
Genomes Max Group AF 0.14750353 (NFE)
Exomes Max Group AF 0.15404129 (NFE)
dbSNP:
4768261
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40441116C>T , CM000674.2:g.40441116C>T GRCh38
NC_000012.11:g.40834918C>T , CM000674.1:g.40834918C>T GRCh37
NC_000012.10:g.39121185C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000454784.10:c.3677C>T ENSP00000508949.1:p.Ser1226Phe
ENST00000454784.9:n.3723C>T
NM_173600.2:c.3677C>T NP_775871.2:p.Ser1226Phe
XR_944866.1:n.74+2707G>A
XR_944867.1:n.74+2707G>A
XR_944868.1:n.74+2707G>A
XR_944869.1:n.74+2707G>A
XR_944870.1:n.74+2707G>A
XR_944871.1:n.74+2707G>A
XR_944872.1:n.35G>A
XR_944873.1:n.74+2707G>A
XR_001749087.1:n.74+2707G>A
XR_001749088.1:n.74+2707G>A
XR_944868.2:n.74+2707G>A
XR_944869.2:n.74+2707G>A
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