Canonical Allele Identifier: CA1294519
Gene: HMCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.186130062T>C
GRCh37 chr1:g.186099194T>C
Revel Score:
ENST00000271588 (MANE Select) 0.096
ENST00000367492 0.096
gnomAD v2:
1:186099194 T / C
gnomAD v4:
chr1-186130062-T-C
Joint Max Group AF 0.00001455 (NFE)
Exomes Max Group AF 0.00001544 (NFE)
ClinVar RCV:
RCV002022038
ClinVar Variation:
1480325
dbSNP:
750135200
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186130062T>C , CM000663.2:g.186130062T>C GRCh38
NC_000001.10:g.186099194T>C , CM000663.1:g.186099194T>C GRCh37
NC_000001.9:g.184365817T>C NCBI36
NG_011841.1:g.400512T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.13001T>C MANE Select ENSP00000271588.4:p.Val4334Ala
ENST00000271588.8:c.13001T>C ENSP00000271588.4:p.Val4334Ala
NM_031935.2:c.13001T>C NP_114141.2:p.Val4334Ala
XM_011510037.1:c.12716T>C XP_011508339.1:p.Val4239Ala
XM_011510038.1:c.13001T>C XP_011508340.1:p.Val4334Ala
XM_011510039.1:c.13001T>C XP_011508341.1:p.Val4334Ala
XM_011510038.3:c.13001T>C XP_011508340.1:p.Val4334Ala
XM_017002437.1:c.11024T>C XP_016857926.1:p.Val3675Ala
NM_031935.3:c.13001T>C MANE Select NP_114141.2:p.Val4334Ala
Search 100 bp 5'
Search 100 bp 3'