Canonical Allele Identifier: CA1345121
Gene: KISS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1303092
ClinVar RCV Id: RCV001756591
dbSNP Id: rs199666322
ExAC: 1:204159680 A / G
gnomAD v2: 1-204159680-A-G
gnomAD v3: 1-204190552-A-G
gnomAD v4: 1-204190552-A-G
MyVariant Identifiers: chr1:g.204159680A>G (hg19) chr1:g.204190552A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204190552A>G , CM000663.2:g.204190552A>G GRCh38
NC_000001.10:g.204159680A>G , CM000663.1:g.204159680A>G GRCh37
NC_000001.9:g.202426303A>G NCBI36
NG_032151.1:g.10940T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367194.5:c.349T>C MANE Select ENSP00000356162.4:p.Phe117Leu
ENST00000367194.4:c.349T>C ENSP00000356162.4:p.Phe117Leu
ENST00000625357.1:c.349T>C ENSP00000485957.1:p.Phe117Leu
NM_002256.3:c.349T>C NP_002247.3:p.Phe117Leu
XM_011509525.1:c.349T>C XP_011507827.1:p.Phe117Leu
NM_002256.4:c.349T>C MANE Select NP_002247.3:p.Phe117Leu
Search 100 bp 5'
Search 100 bp 3'