Canonical Allele Identifier: CA985426828

Gene: GH1 CSHL1

Linked Data

• dbSNP Id: rs753904435
• gnomAD v3: 17-63917959-C-G
• gnomAD v4: 17-63917959-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63917959C>G , CM000679.2:g.63917959C>G	GRCh38
NC_000017.10:g.61995319C>G , CM000679.1:g.61995319C>G	GRCh37
NC_000017.9:g.59349051C>G	NCBI36
NG_011676.1:g.5880G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323322.10:c.292-35G>C (GH1) MANE Select	ENSP00000312673.5:n.292-35G>C
ENST00000647774.1:c.570-35G>C
ENST00000323322.9:c.292-35G>C (GH1)	ENSP00000312673.5:n.292-35G>C
ENST00000342364.8:c.171+387G>C (GH1)	ENSP00000339278.4:n.171+387G>C
ENST00000351388.8:c.172-35G>C (GH1)	ENSP00000343791.4:n.172-35G>C
ENST00000392824.8:c.10+808G>C (CSHL1)	ENSP00000376569.5:n.10+808G>C
ENST00000458650.6:c.247-35G>C (GH1)	ENSP00000408486.2:n.247-35G>C
ENST00000579711.1:n.653-35G>C (GH1)
ENST00000617086.1:c.11-453G>C (GH1)	ENSP00000481276.1:n.11-453G>C
NM_000515.4:c.292-35G>C (GH1)	NP_000506.2:n.292-35G>C
NM_022559.3:c.247-35G>C (GH1)	NP_072053.1:n.247-35G>C
NM_022560.3:c.172-35G>C (GH1)	NP_072054.1:n.172-35G>C
XM_011524612.1:c.292-35G>C (GH1)	XP_011522914.1:n.292-35G>C
NM_000515.5:c.292-35G>C (GH1) MANE Select	NP_000506.2:n.292-35G>C
NM_022559.4:c.247-35G>C (GH1)	NP_072053.1:n.247-35G>C
NM_022560.4:c.172-35G>C (GH1)	NP_072054.1:n.172-35G>C