Canonical Allele Identifier: CA1293058

Gene: HMCN1

Linked Data

• ClinVar Variation Id: 294195
• ClinVar RCV Id: RCV000293811 ; RCV000974875
• dbSNP Id: rs77026548
• ExAC: 1:186043899 T / C
• gnomAD v2: 1-186043899-T-C
• gnomAD v3: 1-186074767-T-C
• gnomAD v4: 1-186074767-T-C
• MyVariant Identifiers: chr1:g.186043899T>C (hg19) ; chr1:g.186074767T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186074767T>C , CM000663.2:g.186074767T>C	GRCh38
NC_000001.10:g.186043899T>C , CM000663.1:g.186043899T>C	GRCh37
NC_000001.9:g.184310522T>C	NCBI36
NG_011841.1:g.345217T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.8166T>C MANE Select	ENSP00000271588.4:p.Asn2722=
ENST00000271588.8:c.8166T>C	ENSP00000271588.4:p.Asn2722=
NM_031935.2:c.8166T>C	NP_114141.2:p.Asn2722=
XM_011510037.1:c.8166T>C	XP_011508339.1:p.Asn2722=
XM_011510038.1:c.8166T>C	XP_011508340.1:p.Asn2722=
XM_011510039.1:c.8166T>C	XP_011508341.1:p.Asn2722=
XM_011510040.1:c.8166T>C	XP_011508342.1:p.Asn2722=
XM_011510041.1:c.8166T>C	XP_011508343.1:p.Asn2722=
XM_011510038.3:c.8166T>C	XP_011508340.1:p.Asn2722=
XM_011510041.3:c.8166T>C	XP_011508343.1:p.Asn2722=
XM_017002437.1:c.6189T>C	XP_016857926.1:p.Asn2063=
XM_024450118.1:c.8166T>C	XP_024305886.1:p.Asn2722=
NM_031935.3:c.8166T>C MANE Select	NP_114141.2:p.Asn2722=