Canonical Allele Identifier: CA1345127

Gene: KISS1

Linked Data

• ClinVar Variation Id: 716738
• ClinVar RCV Id: RCV000889430
• dbSNP Id: rs192636495
• ExAC: 1:204159701 G / T
• gnomAD v2: 1-204159701-G-T
• gnomAD v3: 1-204190573-G-T
• gnomAD v4: 1-204190573-G-T
• COSMIC: COSM1748094
• MyVariant Identifiers: chr1:g.204159701G>T (hg19) ; chr1:g.204190573G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204190573G>T , CM000663.2:g.204190573G>T	GRCh38
NC_000001.10:g.204159701G>T , CM000663.1:g.204159701G>T	GRCh37
NC_000001.9:g.202426324G>T	NCBI36
NG_032151.1:g.10919C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367194.5:c.328C>A MANE Select	ENSP00000356162.4:p.Pro110Thr
ENST00000367194.4:c.328C>A	ENSP00000356162.4:p.Pro110Thr
ENST00000625357.1:c.328C>A	ENSP00000485957.1:p.Pro110Thr
NM_002256.3:c.328C>A	NP_002247.3:p.Pro110Thr
XM_011509525.1:c.328C>A	XP_011507827.1:p.Pro110Thr
NM_002256.4:c.328C>A MANE Select	NP_002247.3:p.Pro110Thr