Canonical Allele Identifier: CA3054205645
Gene: HMCN1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186003715A>C , CM000663.2:g.186003715A>C GRCh38
NC_000001.10:g.185972847A>C , CM000663.1:g.185972847A>C GRCh37
NC_000001.9:g.184239470A>C NCBI36
NG_011841.1:g.274165A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.4349-3A>C MANE Select ENSP00000271588.4:n.4349-3A>C
ENST00000271588.8:c.4349-3A>C ENSP00000271588.4:n.4349-3A>C
NM_031935.2:c.4349-3A>C NP_114141.2:n.4349-3A>C
XM_011510037.1:c.4349-3A>C XP_011508339.1:n.4349-3A>C
XM_011510038.1:c.4349-3A>C XP_011508340.1:n.4349-3A>C
XM_011510039.1:c.4349-3A>C XP_011508341.1:n.4349-3A>C
XM_011510040.1:c.4349-3A>C XP_011508342.1:n.4349-3A>C
XM_011510041.1:c.4349-3A>C XP_011508343.1:n.4349-3A>C
XM_011510038.3:c.4349-3A>C XP_011508340.1:n.4349-3A>C
XM_011510041.3:c.4349-3A>C XP_011508343.1:n.4349-3A>C
XM_017002437.1:c.2372-3A>C XP_016857926.1:n.2372-3A>C
XM_024450118.1:c.4349-3A>C XP_024305886.1:n.4349-3A>C
NM_031935.3:c.4349-3A>C MANE Select NP_114141.2:n.4349-3A>C