Canonical Allele Identifier: CA4830487

Gene: GRHL2

Linked Data

• dbSNP Id: rs777892218
• ExAC: 8:102611430 A / C
• gnomAD v2: 8-102611430-A-C
• gnomAD v4: 8-101599202-A-C
• MyVariant Identifiers: chr8:g.102611430A>C (hg19) ; chr8:g.101599202A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101599202A>C , CM000670.2:g.101599202A>C	GRCh38
NC_000008.10:g.102611430A>C , CM000670.1:g.102611430A>C	GRCh37
NC_000008.9:g.102680606A>C	NCBI36
NG_011971.1:g.111763A>C
NG_011971.2:g.111763A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.1098+51A>C MANE Select	ENSP00000495564.1:n.1098+51A>C
ENST00000251808.7:c.1098+51A>C	ENSP00000251808.3:n.1098+51A>C
ENST00000395927.1:c.1050+51A>C	ENSP00000379260.1:n.1050+51A>C
NM_024915.3:c.1098+51A>C	NP_079191.2:n.1098+51A>C
XM_011517305.1:c.1050+51A>C	XP_011515607.1:n.1050+51A>C
XM_011517306.1:c.1050+51A>C	XP_011515608.1:n.1050+51A>C
XM_011517307.1:c.1098+51A>C	XP_011515609.1:n.1098+51A>C
NM_001330593.1:c.1050+51A>C	NP_001317522.1:n.1050+51A>C
XM_011517306.3:c.1050+51A>C	XP_011515608.1:n.1050+51A>C
XM_011517307.3:c.1098+51A>C	XP_011515609.1:n.1098+51A>C
NM_001330593.2:c.1050+51A>C	NP_001317522.1:n.1050+51A>C
NM_024915.4:c.1098+51A>C MANE Select	NP_079191.2:n.1098+51A>C