Canonical Allele Identifier: CA1291763
Gene: HMCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.185994859G>T
GRCh37 chr1:g.185963991G>T
Revel Score:
ENST00000271588 (MANE Select) 0.151
ENST00000367492 0.151
gnomAD v2:
1:185963991 G / T
gnomAD v3:
1:185994859 G / T
gnomAD v4:
chr1-185994859-G-T
Joint Max Group AF 0.03730256 (AFR)
Genomes Max Group AF 0.03573175 (AFR)
Exomes Max Group AF 0.03817944 (AFR)
ClinVar RCV:
RCV000279876
RCV000972209
ClinVar Variation:
294133
dbSNP:
12239296
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.185994859G>T , CM000663.2:g.185994859G>T GRCh38
NC_000001.10:g.185963991G>T , CM000663.1:g.185963991G>T GRCh37
NC_000001.9:g.184230614G>T NCBI36
NG_011841.1:g.265309G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.3550G>T MANE Select ENSP00000271588.4:p.Val1184Phe
ENST00000271588.8:c.3550G>T ENSP00000271588.4:p.Val1184Phe
NM_031935.2:c.3550G>T NP_114141.2:p.Val1184Phe
XM_011510037.1:c.3550G>T XP_011508339.1:p.Val1184Phe
XM_011510038.1:c.3550G>T XP_011508340.1:p.Val1184Phe
XM_011510039.1:c.3550G>T XP_011508341.1:p.Val1184Phe
XM_011510040.1:c.3550G>T XP_011508342.1:p.Val1184Phe
XM_011510041.1:c.3550G>T XP_011508343.1:p.Val1184Phe
XM_011510038.3:c.3550G>T XP_011508340.1:p.Val1184Phe
XM_011510041.3:c.3550G>T XP_011508343.1:p.Val1184Phe
XM_017002437.1:c.1573G>T XP_016857926.1:p.Val525Phe
XM_024450118.1:c.3550G>T XP_024305886.1:p.Val1184Phe
NM_031935.3:c.3550G>T MANE Select NP_114141.2:p.Val1184Phe
Search 100 bp 5'
Search 100 bp 3'