Canonical Allele Identifier: CA1291750

Gene: HMCN1

Linked Data

• dbSNP Id: rs768558511
• ExAC: 1:185963909 T / G
• gnomAD v2: 1-185963909-T-G
• gnomAD v3: 1-185994777-T-G
• gnomAD v4: 1-185994777-T-G
• MyVariant Identifiers: chr1:g.185963909T>G (hg19) ; chr1:g.185994777T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.185994777T>G , CM000663.2:g.185994777T>G	GRCh38
NC_000001.10:g.185963909T>G , CM000663.1:g.185963909T>G	GRCh37
NC_000001.9:g.184230532T>G	NCBI36
NG_011841.1:g.265227T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271588.9:c.3506-38T>G MANE Select	ENSP00000271588.4:n.3506-38T>G
ENST00000271588.8:c.3506-38T>G	ENSP00000271588.4:n.3506-38T>G
NM_031935.2:c.3506-38T>G	NP_114141.2:n.3506-38T>G
XM_011510037.1:c.3506-38T>G	XP_011508339.1:n.3506-38T>G
XM_011510038.1:c.3506-38T>G	XP_011508340.1:n.3506-38T>G
XM_011510039.1:c.3506-38T>G	XP_011508341.1:n.3506-38T>G
XM_011510040.1:c.3506-38T>G	XP_011508342.1:n.3506-38T>G
XM_011510041.1:c.3506-38T>G	XP_011508343.1:n.3506-38T>G
XM_011510038.3:c.3506-38T>G	XP_011508340.1:n.3506-38T>G
XM_011510041.3:c.3506-38T>G	XP_011508343.1:n.3506-38T>G
XM_017002437.1:c.1529-38T>G	XP_016857926.1:n.1529-38T>G
XM_024450118.1:c.3506-38T>G	XP_024305886.1:n.3506-38T>G
NM_031935.3:c.3506-38T>G MANE Select	NP_114141.2:n.3506-38T>G