Canonical Allele Identifier: CA1294517
Gene: HMCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.186130049G>A
GRCh37 chr1:g.186099181G>A
Revel Score:
ENST00000271588 (MANE Select) 0.791
ENST00000367492 0.791
gnomAD v2:
1:186099181 G / A
gnomAD v3:
1:186130049 G / A
gnomAD v4:
chr1-186130049-G-A
Joint Max Group AF 0.00014862 (NFE)
Genomes Max Group AF 0.00005843 (NFE)
Exomes Max Group AF 0.0001506 (NFE)
ClinVar RCV:
RCV003122075
ClinVar Variation:
2420910
dbSNP:
201836712
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186130049G>A , CM000663.2:g.186130049G>A GRCh38
NC_000001.10:g.186099181G>A , CM000663.1:g.186099181G>A GRCh37
NC_000001.9:g.184365804G>A NCBI36
NG_011841.1:g.400499G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.12988G>A MANE Select ENSP00000271588.4:p.Ala4330Thr
ENST00000271588.8:c.12988G>A ENSP00000271588.4:p.Ala4330Thr
NM_031935.2:c.12988G>A NP_114141.2:p.Ala4330Thr
XM_011510037.1:c.12703G>A XP_011508339.1:p.Ala4235Thr
XM_011510038.1:c.12988G>A XP_011508340.1:p.Ala4330Thr
XM_011510039.1:c.12988G>A XP_011508341.1:p.Ala4330Thr
XM_011510038.3:c.12988G>A XP_011508340.1:p.Ala4330Thr
XM_017002437.1:c.11011G>A XP_016857926.1:p.Ala3671Thr
NM_031935.3:c.12988G>A MANE Select NP_114141.2:p.Ala4330Thr
Search 100 bp 5'
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