Canonical Allele Identifier: CA371643035

Gene: GRHL2

Linked Data

• dbSNP Id: rs1486388579
• gnomAD v3: 8-101543249-G-T
• gnomAD v4: 8-101543249-G-T
• MyVariant Identifiers: chr8:g.102555477G>T (hg19) ; chr8:g.101543249G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101543249G>T , CM000670.2:g.101543249G>T	GRCh38
NC_000008.10:g.102555477G>T , CM000670.1:g.102555477G>T	GRCh37
NC_000008.9:g.102624653G>T	NCBI36
NG_011971.1:g.55810G>T
NG_011971.2:g.55810G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.29G>T MANE Select	ENSP00000495564.1:p.Arg10Ile
ENST00000251808.7:c.29G>T	ENSP00000251808.3:p.Arg10Ile
ENST00000395927.1:c.-20G>T	ENSP00000379260.1:n.-20G>T
ENST00000472106.2:n.357G>T
NM_024915.3:c.29G>T	NP_079191.2:p.Arg10Ile
XM_011517305.1:c.-20G>T	XP_011515607.1:n.-20G>T
XM_011517306.1:c.-20G>T	XP_011515608.1:n.-20G>T
XM_011517307.1:c.29G>T	XP_011515609.1:p.Arg10Ile
NM_001330593.1:c.-20G>T	NP_001317522.1:n.-20G>T
XM_011517306.3:c.-20G>T	XP_011515608.1:n.-20G>T
XM_011517307.3:c.29G>T	XP_011515609.1:p.Arg10Ile
NM_001330593.2:c.-20G>T	NP_001317522.1:n.-20G>T
NM_024915.4:c.29G>T MANE Select	NP_079191.2:p.Arg10Ile