Canonical Allele Identifier: CA1295535
Gene: HMCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 781796
ClinVar RCV Id: RCV000963078 RCV001096861
dbSNP Id: rs35856562
ExAC: 1:186151390 A / G
gnomAD v2: 1-186151390-A-G
gnomAD v3: 1-186182258-A-G
gnomAD v4: 1-186182258-A-G
MyVariant Identifiers: chr1:g.186151390A>G (hg19) chr1:g.186182258A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186182258A>G , CM000663.2:g.186182258A>G GRCh38
NC_000001.10:g.186151390A>G , CM000663.1:g.186151390A>G GRCh37
NC_000001.9:g.184418013A>G NCBI36
NG_011841.1:g.452708A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000271588.9:c.16385A>G MANE Select ENSP00000271588.4:p.Gln5462Arg
ENST00000271588.8:c.16385A>G ENSP00000271588.4:p.Gln5462Arg
ENST00000414277.1:c.410A>G ENSP00000406205.1:p.Gln137Arg
NM_031935.2:c.16385A>G NP_114141.2:p.Gln5462Arg
XM_011510037.1:c.16100A>G XP_011508339.1:p.Gln5367Arg
XM_011510038.1:c.16034A>G XP_011508340.1:p.Gln5345Arg
XM_011510038.3:c.16034A>G XP_011508340.1:p.Gln5345Arg
XM_017002437.1:c.14408A>G XP_016857926.1:p.Gln4803Arg
NM_031935.3:c.16385A>G MANE Select NP_114141.2:p.Gln5462Arg
Search 100 bp 5'
Search 100 bp 3'