Canonical Allele Identifier: CA1291763

Gene: HMCN1

Linked Data

• ClinVar Variation Id: 294133
• ClinVar RCV Id: RCV000279876 ; RCV000972209
• dbSNP Id: rs12239296
• ExAC: 1:185963991 G / T
• gnomAD v2: 1-185963991-G-T
• gnomAD v3: 1-185994859-G-T
• gnomAD v4: 1-185994859-G-T
• MyVariant Identifiers: chr1:g.185963991G>T (hg19) ; chr1:g.185994859G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.185994859G>T , CM000663.2:g.185994859G>T	GRCh38
NC_000001.10:g.185963991G>T , CM000663.1:g.185963991G>T	GRCh37
NC_000001.9:g.184230614G>T	NCBI36
NG_011841.1:g.265309G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.3550G>T MANE Select	ENSP00000271588.4:p.Val1184Phe
ENST00000271588.8:c.3550G>T	ENSP00000271588.4:p.Val1184Phe
NM_031935.2:c.3550G>T	NP_114141.2:p.Val1184Phe
XM_011510037.1:c.3550G>T	XP_011508339.1:p.Val1184Phe
XM_011510038.1:c.3550G>T	XP_011508340.1:p.Val1184Phe
XM_011510039.1:c.3550G>T	XP_011508341.1:p.Val1184Phe
XM_011510040.1:c.3550G>T	XP_011508342.1:p.Val1184Phe
XM_011510041.1:c.3550G>T	XP_011508343.1:p.Val1184Phe
XM_011510038.3:c.3550G>T	XP_011508340.1:p.Val1184Phe
XM_011510041.3:c.3550G>T	XP_011508343.1:p.Val1184Phe
XM_017002437.1:c.1573G>T	XP_016857926.1:p.Val525Phe
XM_024450118.1:c.3550G>T	XP_024305886.1:p.Val1184Phe
NM_031935.3:c.3550G>T MANE Select	NP_114141.2:p.Val1184Phe