Canonical Allele Identifier: CA8708257

Gene: GH1 CSHL1

Linked Data

• dbSNP Id: rs772711019
• ExAC: 17:61995333 A / G
• gnomAD v2: 17-61995333-A-G
• gnomAD v4: 17-63917973-A-G
• MyVariant Identifiers: chr17:g.61995333A>G (hg19) ; chr17:g.63917973A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917973A>G , CM000679.2:g.63917973A>G	GRCh38
NC_000017.10:g.61995333A>G , CM000679.1:g.61995333A>G	GRCh37
NC_000017.9:g.59349065A>G	NCBI36
NG_011676.1:g.5866T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.291+44T>C (GH1) MANE Select	ENSP00000312673.5:n.291+44T>C
ENST00000647774.1:c.569+44T>C
ENST00000323322.9:c.291+44T>C (GH1)	ENSP00000312673.5:n.291+44T>C
ENST00000342364.8:c.171+373T>C (GH1)	ENSP00000339278.4:n.171+373T>C
ENST00000351388.8:c.172-49T>C (GH1)	ENSP00000343791.4:n.172-49T>C
ENST00000392824.8:c.10+794T>C (CSHL1)	ENSP00000376569.5:n.10+794T>C
ENST00000458650.6:c.246+44T>C (GH1)	ENSP00000408486.2:n.246+44T>C
ENST00000579711.1:n.652+44T>C (GH1)
ENST00000617086.1:c.11-467T>C (GH1)	ENSP00000481276.1:n.11-467T>C
NM_000515.4:c.291+44T>C (GH1)	NP_000506.2:n.291+44T>C
NM_022559.3:c.246+44T>C (GH1)	NP_072053.1:n.246+44T>C
NM_022560.3:c.172-49T>C (GH1)	NP_072054.1:n.172-49T>C
XM_011524612.1:c.291+44T>C (GH1)	XP_011522914.1:n.291+44T>C
NM_000515.5:c.291+44T>C (GH1) MANE Select	NP_000506.2:n.291+44T>C
NM_022559.4:c.246+44T>C (GH1)	NP_072053.1:n.246+44T>C
NM_022560.4:c.172-49T>C (GH1)	NP_072054.1:n.172-49T>C