Canonical Allele Identifier: CA130185
Gene: KISS1R HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.920746T>A
GRCh37 chr19:g.920746T>A
gnomAD v2:
19:920746 T / A
gnomAD v3:
19:920746 T / A
gnomAD v4:
chr19-920746-T-A
Joint Max Group AF 0.00005545 (NFE)
Genomes Max Group AF 0.00007909 (NFE)
Exomes Max Group AF 0.00004995 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.920746T>A , CM000681.2:g.920746T>A GRCh38
NC_000019.9:g.920746T>A , CM000681.1:g.920746T>A GRCh37
NC_000019.8:g.871746T>A NCBI36
NG_008277.1:g.8405T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000234371.10:c.1195T>A MANE Select ENSP00000234371.3:p.Ter399Arg
ENST00000234371.9:c.1195T>A ENSP00000234371.3:p.Ter399Arg
ENST00000606939.2:c.962T>A ENSP00000475639.1:n.962T>A
NM_032551.4:c.1195T>A NP_115940.2:p.Ter399Arg
NM_032551.5:c.1195T>A MANE Select NP_115940.2:p.Ter399Arg
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