Canonical Allele Identifier: CA130182
Gene: KISS1R HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.919563T>C
GRCh37 chr19:g.919563T>C
Revel Score:
ENST00000234371 (MANE Select) 0.484
gnomAD v2:
19:919563 T / C
gnomAD v4:
chr19-919563-T-C
Joint Max Group AF 2.9e-7 (NFE)
Exomes Max Group AF 3.1e-7 (NFE)
ClinVar RCV:
RCV000030878
ClinVar Variation:
5755
dbSNP:
28939719
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.919563T>C , CM000681.2:g.919563T>C GRCh38
NC_000019.9:g.919563T>C , CM000681.1:g.919563T>C GRCh37
NC_000019.8:g.870563T>C NCBI36
NG_008277.1:g.7222T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000234371.10:c.443T>C MANE Select ENSP00000234371.3:p.Leu148Ser
ENST00000234371.9:c.443T>C ENSP00000234371.3:p.Leu148Ser
ENST00000606939.2:c.443T>C ENSP00000475639.1:p.Leu148Ser
NM_032551.4:c.443T>C NP_115940.2:p.Leu148Ser
XM_017027382.1:c.443T>C XP_016882871.1:p.Leu148Ser
NM_032551.5:c.443T>C MANE Select NP_115940.2:p.Leu148Ser
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