Canonical Allele Identifier: CA1291450
Gene: HMCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.185981067G>A
GRCh37 chr1:g.185950199G>A
Revel Score:
ENST00000271588 (MANE Select) 0.552
ENST00000367492 0.552
gnomAD v2:
1:185950199 G / A
gnomAD v3:
1:185981067 G / A
gnomAD v4:
chr1-185981067-G-A
Joint Max Group AF 0.00022668 (MID)
Genomes Max Group AF 0.00000799 (AFR)
Exomes Max Group AF 0.00023853 (MID)
ClinVar Allele:
1036978
ClinVar RCV:
RCV001357861
RCV003450004
RCV004034489
ClinVar Variation:
1050432
dbSNP:
368702685
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.185981067G>A , CM000663.2:g.185981067G>A GRCh38
NC_000001.10:g.185950199G>A , CM000663.1:g.185950199G>A GRCh37
NC_000001.9:g.184216822G>A NCBI36
NG_011841.1:g.251517G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.2656G>A MANE Select ENSP00000271588.4:p.Gly886Arg
ENST00000271588.8:c.2656G>A ENSP00000271588.4:p.Gly886Arg
ENST00000485744.5:n.907G>A
NM_031935.2:c.2656G>A NP_114141.2:p.Gly886Arg
XM_011510037.1:c.2656G>A XP_011508339.1:p.Gly886Arg
XM_011510038.1:c.2656G>A XP_011508340.1:p.Gly886Arg
XM_011510039.1:c.2656G>A XP_011508341.1:p.Gly886Arg
XM_011510040.1:c.2656G>A XP_011508342.1:p.Gly886Arg
XM_011510041.1:c.2656G>A XP_011508343.1:p.Gly886Arg
XM_011510038.3:c.2656G>A XP_011508340.1:p.Gly886Arg
XM_011510041.3:c.2656G>A XP_011508343.1:p.Gly886Arg
XM_017002437.1:c.679G>A XP_016857926.1:p.Gly227Arg
XM_024450118.1:c.2656G>A XP_024305886.1:p.Gly886Arg
NM_031935.3:c.2656G>A MANE Select NP_114141.2:p.Gly886Arg
Search 100 bp 5'
Search 100 bp 3'