Canonical Allele Identifier: CA1291768
Gene: HMCN1 HGNC NCBI
dbSNP:
144865902
gnomAD v2:
1:185964006 G / A
gnomAD v3:
1:185994874 G / A
gnomAD v4:
chr1-185994874-G-A
Joint Max Group AF 0.00053475 (SAS)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00056436 (SAS)
MyVariant.info:
GRCh38 chr1:g.185994874G>A
GRCh37 chr1:g.185964006G>A
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.185994874G>A , CM000663.2:g.185994874G>A GRCh38
NC_000001.10:g.185964006G>A , CM000663.1:g.185964006G>A GRCh37
NC_000001.9:g.184230629G>A NCBI36
NG_011841.1:g.265324G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.3565G>A MANE Select ENSP00000271588.4:p.Asp1189Asn
ENST00000271588.8:c.3565G>A ENSP00000271588.4:p.Asp1189Asn
NM_031935.2:c.3565G>A NP_114141.2:p.Asp1189Asn
XM_011510037.1:c.3565G>A XP_011508339.1:p.Asp1189Asn
XM_011510038.1:c.3565G>A XP_011508340.1:p.Asp1189Asn
XM_011510039.1:c.3565G>A XP_011508341.1:p.Asp1189Asn
XM_011510040.1:c.3565G>A XP_011508342.1:p.Asp1189Asn
XM_011510041.1:c.3565G>A XP_011508343.1:p.Asp1189Asn
XM_011510038.3:c.3565G>A XP_011508340.1:p.Asp1189Asn
XM_011510041.3:c.3565G>A XP_011508343.1:p.Asp1189Asn
XM_017002437.1:c.1588G>A XP_016857926.1:p.Asp530Asn
XM_024450118.1:c.3565G>A XP_024305886.1:p.Asp1189Asn
NM_031935.3:c.3565G>A MANE Select NP_114141.2:p.Asp1189Asn
Search 100 bp 5'
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