Canonical Allele Identifier: CA343907215
Gene: HMCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.186130061G>A
GRCh37 chr1:g.186099193G>A
Revel Score:
ENST00000271588 (MANE Select) 0.094
ENST00000367492 0.094
gnomAD v2:
1:186099193 G / A
gnomAD v3:
1:186130061 G / A
gnomAD v4:
chr1-186130061-G-A
Joint Max Group AF 0.00001329 (AMR)
Genomes Max Group AF 0.00005291 (AMR)
Exomes Max Group AF 0.00000531 (NFE)
ClinVar RCV:
RCV002923242
ClinVar Variation:
2057213
dbSNP:
1327271424
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186130061G>A , CM000663.2:g.186130061G>A GRCh38
NC_000001.10:g.186099193G>A , CM000663.1:g.186099193G>A GRCh37
NC_000001.9:g.184365816G>A NCBI36
NG_011841.1:g.400511G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.13000G>A MANE Select ENSP00000271588.4:p.Val4334Ile
ENST00000271588.8:c.13000G>A ENSP00000271588.4:p.Val4334Ile
NM_031935.2:c.13000G>A NP_114141.2:p.Val4334Ile
XM_011510037.1:c.12715G>A XP_011508339.1:p.Val4239Ile
XM_011510038.1:c.13000G>A XP_011508340.1:p.Val4334Ile
XM_011510039.1:c.13000G>A XP_011508341.1:p.Val4334Ile
XM_011510038.3:c.13000G>A XP_011508340.1:p.Val4334Ile
XM_017002437.1:c.11023G>A XP_016857926.1:p.Val3675Ile
NM_031935.3:c.13000G>A MANE Select NP_114141.2:p.Val4334Ile
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