Canonical Allele Identifier: CA180118

Gene: HMCN1

Linked Data

• ClinVar Variation Id: 167179
• ClinVar RCV Id: RCV000153364 ; RCV000391836 ; RCV000954222
• dbSNP Id: rs115169621
• ExAC: 1:185704025 G / T
• gnomAD v2: 1-185704025-G-T
• gnomAD v3: 1-185734893-G-T
• gnomAD v4: 1-185734893-G-T
• MyVariant Identifiers: chr1:g.185704025G>T (hg19) ; chr1:g.185734893G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.185734893G>T , CM000663.2:g.185734893G>T	GRCh38
NC_000001.10:g.185704025G>T , CM000663.1:g.185704025G>T	GRCh37
NC_000001.9:g.183970648G>T	NCBI36
NG_011841.1:g.5343G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.114G>T MANE Select	ENSP00000271588.4:p.Gly38=
ENST00000271588.8:c.114G>T	ENSP00000271588.4:p.Gly38=
NM_031935.2:c.114G>T	NP_114141.2:p.Gly38=
XM_011510037.1:c.114G>T	XP_011508339.1:p.Gly38=
XM_011510038.1:c.114G>T	XP_011508340.1:p.Gly38=
XM_011510039.1:c.114G>T	XP_011508341.1:p.Gly38=
XM_011510040.1:c.114G>T	XP_011508342.1:p.Gly38=
XM_011510041.1:c.114G>T	XP_011508343.1:p.Gly38=
XM_011510038.3:c.114G>T	XP_011508340.1:p.Gly38=
XM_011510041.3:c.114G>T	XP_011508343.1:p.Gly38=
XM_024450118.1:c.114G>T	XP_024305886.1:p.Gly38=
NM_031935.3:c.114G>T MANE Select	NP_114141.2:p.Gly38=