Canonical Allele Identifier: CA212963

Gene: GH1 CSHL1

Linked Data

• ClinVar Variation Id: 15970
• ClinVar RCV Id: RCV002504799
• dbSNP Id: rs71640277
• gnomAD v4: 17-63918016-C-T
• MyVariant Identifiers: chr17:g.61995376C>T (hg19) ; chr17:g.63918016C>T (hg38)
• PubMed: PMID:8530604 ; PMID:10372722 ; PMID:10445339

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63918016C>T , CM000679.2:g.63918016C>T	GRCh38
NC_000017.10:g.61995376C>T , CM000679.1:g.61995376C>T	GRCh37
NC_000017.9:g.59349108C>T	NCBI36
NG_011676.1:g.5823G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000323322.10:c.291+1G>A (GH1) MANE Select	ENSP00000312673.5:n.291+1G>A
ENST00000647774.1:c.569+1G>A
ENST00000323322.9:c.291+1G>A (GH1)	ENSP00000312673.5:n.291+1G>A
ENST00000342364.8:c.171+330G>A (GH1)	ENSP00000339278.4:n.171+330G>A
ENST00000351388.8:c.172-92G>A (GH1)	ENSP00000343791.4:n.172-92G>A
ENST00000392824.8:c.10+751G>A (CSHL1)	ENSP00000376569.5:n.10+751G>A
ENST00000458650.6:c.246+1G>A (GH1)	ENSP00000408486.2:n.246+1G>A
ENST00000579711.1:n.652+1G>A (GH1)
ENST00000617086.1:c.11-510G>A (GH1)	ENSP00000481276.1:n.11-510G>A
NM_000515.4:c.291+1G>A (GH1)	NP_000506.2:n.291+1G>A
NM_022559.3:c.246+1G>A (GH1)	NP_072053.1:n.246+1G>A
NM_022560.3:c.172-92G>A (GH1)	NP_072054.1:n.172-92G>A
XM_011524612.1:c.291+1G>A (GH1)	XP_011522914.1:n.291+1G>A
NM_000515.5:c.291+1G>A (GH1) MANE Select	NP_000506.2:n.291+1G>A
NM_022559.4:c.246+1G>A (GH1)	NP_072053.1:n.246+1G>A
NM_022560.4:c.172-92G>A (GH1)	NP_072054.1:n.172-92G>A