Canonical Allele Identifier: CA343935111
Gene: HMCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.186174531G>T
GRCh37 chr1:g.186143663G>T
Revel Score:
ENST00000271588 (MANE Select) 0.832
ENST00000367492 0.832
ENST00000414277 0.832
gnomAD v2:
1:186143663 G / T
gnomAD v3:
1:186174531 G / T
gnomAD v4:
chr1-186174531-G-T
Joint Max Group AF 0.00000542 (NFE)
Exomes Max Group AF 0.00000531 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186174531G>T , CM000663.2:g.186174531G>T GRCh38
NC_000001.10:g.186143663G>T , CM000663.1:g.186143663G>T GRCh37
NC_000001.9:g.184410286G>T NCBI36
NG_011841.1:g.444981G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271588.9:c.15832G>T MANE Select ENSP00000271588.4:p.Asp5278Tyr
ENST00000271588.8:c.15832G>T ENSP00000271588.4:p.Asp5278Tyr
ENST00000414277.1:c.208G>T ENSP00000406205.1:p.Asp70Tyr
NM_031935.2:c.15832G>T NP_114141.2:p.Asp5278Tyr
XM_011510037.1:c.15547G>T XP_011508339.1:p.Asp5183Tyr
XM_011510038.1:c.15832G>T XP_011508340.1:p.Asp5278Tyr
XM_011510038.3:c.15832G>T XP_011508340.1:p.Asp5278Tyr
XM_017002437.1:c.13855G>T XP_016857926.1:p.Asp4619Tyr
NM_031935.3:c.15832G>T MANE Select NP_114141.2:p.Asp5278Tyr
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