Canonical Allele Identifier: CA4830613

Gene: GRHL2

Linked Data

• dbSNP Id: rs752250944
• ExAC: 8:102656362 C / T
• gnomAD v2: 8-102656362-C-T
• gnomAD v3: 8-101644134-C-T
• gnomAD v4: 8-101644134-C-T
• MyVariant Identifiers: chr8:g.102656362C>T (hg19) ; chr8:g.101644134C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101644134C>T , CM000670.2:g.101644134C>T	GRCh38
NC_000008.10:g.102656362C>T , CM000670.1:g.102656362C>T	GRCh37
NC_000008.9:g.102725538C>T	NCBI36
NG_011971.1:g.156695C>T
NG_011971.2:g.156695C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000646743.1:c.1521C>T MANE Select	ENSP00000495564.1:p.Gly507=
ENST00000251808.7:c.1521C>T	ENSP00000251808.3:p.Gly507=
ENST00000395927.1:c.1473C>T	ENSP00000379260.1:p.Gly491=
ENST00000474338.1:n.163C>T
ENST00000517674.5:n.176C>T
NM_024915.3:c.1521C>T	NP_079191.2:p.Gly507=
XM_011517305.1:c.1473C>T	XP_011515607.1:p.Gly491=
XM_011517306.1:c.1473C>T	XP_011515608.1:p.Gly491=
XM_011517307.1:c.1521C>T	XP_011515609.1:p.Gly507=
NM_001330593.1:c.1473C>T	NP_001317522.1:p.Gly491=
XM_011517306.3:c.1473C>T	XP_011515608.1:p.Gly491=
XM_011517307.3:c.1521C>T	XP_011515609.1:p.Gly507=
NM_001330593.2:c.1473C>T	NP_001317522.1:p.Gly491=
NM_024915.4:c.1521C>T MANE Select	NP_079191.2:p.Gly507=