Canonical Allele Identifier: CA1295158
Gene: HMCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.186153840T>C
GRCh37 chr1:g.186122972T>C
Revel Score:
ENST00000271588 (MANE Select) 0.613
ENST00000367492 0.613
gnomAD v2:
1:186122972 T / C
gnomAD v3:
1:186153840 T / C
gnomAD v4:
chr1-186153840-T-C
Joint Max Group AF 0.0002214 (NFE)
Genomes Max Group AF 0.00015871 (NFE)
Exomes Max Group AF 0.00022054 (NFE)
ClinVar Allele:
1434804
ClinVar RCV:
RCV001897628
RCV003452051
RCV004041261
ClinVar Variation:
1382375
dbSNP:
41317505
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186153840T>C , CM000663.2:g.186153840T>C GRCh38
NC_000001.10:g.186122972T>C , CM000663.1:g.186122972T>C GRCh37
NC_000001.9:g.184389595T>C NCBI36
NG_011841.1:g.424290T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.15109T>C MANE Select ENSP00000271588.4:p.Tyr5037His
ENST00000271588.8:c.15109T>C ENSP00000271588.4:p.Tyr5037His
ENST00000475585.1:n.15T>C
NM_031935.2:c.15109T>C NP_114141.2:p.Tyr5037His
XM_011510037.1:c.14824T>C XP_011508339.1:p.Tyr4942His
XM_011510038.1:c.15109T>C XP_011508340.1:p.Tyr5037His
XM_011510038.3:c.15109T>C XP_011508340.1:p.Tyr5037His
XM_017002437.1:c.13132T>C XP_016857926.1:p.Tyr4378His
NM_031935.3:c.15109T>C MANE Select NP_114141.2:p.Tyr5037His
Search 100 bp 5'
Search 100 bp 3'