Canonical Allele Identifier: CA8708259

Gene: GH1 CSHL1

Linked Data

• dbSNP Id: rs770588602
• ExAC: 17:61995341 C / A
• gnomAD v2: 17-61995341-C-A
• gnomAD v3: 17-63917981-C-A
• gnomAD v4: 17-63917981-C-A
• COSMIC: COSN8603616
• MyVariant Identifiers: chr17:g.61995341C>A (hg19) ; chr17:g.63917981C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917981C>A , CM000679.2:g.63917981C>A	GRCh38
NC_000017.10:g.61995341C>A , CM000679.1:g.61995341C>A	GRCh37
NC_000017.9:g.59349073C>A	NCBI36
NG_011676.1:g.5858G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.291+36G>T (GH1) MANE Select	ENSP00000312673.5:n.291+36G>T
ENST00000647774.1:c.569+36G>T
ENST00000323322.9:c.291+36G>T (GH1)	ENSP00000312673.5:n.291+36G>T
ENST00000342364.8:c.171+365G>T (GH1)	ENSP00000339278.4:n.171+365G>T
ENST00000351388.8:c.172-57G>T (GH1)	ENSP00000343791.4:n.172-57G>T
ENST00000392824.8:c.10+786G>T (CSHL1)	ENSP00000376569.5:n.10+786G>T
ENST00000458650.6:c.246+36G>T (GH1)	ENSP00000408486.2:n.246+36G>T
ENST00000579711.1:n.652+36G>T (GH1)
ENST00000617086.1:c.11-475G>T (GH1)	ENSP00000481276.1:n.11-475G>T
NM_000515.4:c.291+36G>T (GH1)	NP_000506.2:n.291+36G>T
NM_022559.3:c.246+36G>T (GH1)	NP_072053.1:n.246+36G>T
NM_022560.3:c.172-57G>T (GH1)	NP_072054.1:n.172-57G>T
XM_011524612.1:c.291+36G>T (GH1)	XP_011522914.1:n.291+36G>T
NM_000515.5:c.291+36G>T (GH1) MANE Select	NP_000506.2:n.291+36G>T
NM_022559.4:c.246+36G>T (GH1)	NP_072053.1:n.246+36G>T
NM_022560.4:c.172-57G>T (GH1)	NP_072054.1:n.172-57G>T