Canonical Allele Identifier: CA462233901

Gene: GRHL2

Linked Data

• gnomAD v4: 8-101543251-C-T
• MyVariant Identifiers: chr8:g.102555479C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101543251C>T , CM000670.2:g.101543251C>T	GRCh38
NC_000008.10:g.102555479C>T , CM000670.1:g.102555479C>T	GRCh37
NC_000008.9:g.102624655C>T	NCBI36
NG_011971.1:g.55812C>T
NG_011971.2:g.55812C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.31C>T MANE Select	ENSP00000495564.1:p.Leu11=
ENST00000251808.7:c.31C>T	ENSP00000251808.3:p.Leu11=
ENST00000395927.1:c.-18C>T	ENSP00000379260.1:n.-18C>T
ENST00000472106.2:n.359C>T
NM_024915.3:c.31C>T	NP_079191.2:p.Leu11=
XM_011517305.1:c.-18C>T	XP_011515607.1:n.-18C>T
XM_011517306.1:c.-18C>T	XP_011515608.1:n.-18C>T
XM_011517307.1:c.31C>T	XP_011515609.1:p.Leu11=
NM_001330593.1:c.-18C>T	NP_001317522.1:n.-18C>T
XM_011517306.3:c.-18C>T	XP_011515608.1:n.-18C>T
XM_011517307.3:c.31C>T	XP_011515609.1:p.Leu11=
NM_001330593.2:c.-18C>T	NP_001317522.1:n.-18C>T
NM_024915.4:c.31C>T MANE Select	NP_079191.2:p.Leu11=