Canonical Allele Identifier: CA371589430

Gene: GRHL2

Linked Data

• dbSNP Id: rs587777738
• gnomAD v2: 8-102644553-T-C
• gnomAD v3: 8-101632325-T-C
• gnomAD v4: 8-101632325-T-C
• MyVariant Identifiers: chr8:g.102644553T>C (hg19) ; chr8:g.101632325T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101632325T>C , CM000670.2:g.101632325T>C	GRCh38
NC_000008.10:g.102644553T>C , CM000670.1:g.102644553T>C	GRCh37
NC_000008.9:g.102713729T>C	NCBI36
NG_011971.1:g.144886T>C
NG_011971.2:g.144886T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000646743.1:c.1445T>C MANE Select	ENSP00000495564.1:p.Ile482Thr
ENST00000251808.7:c.1445T>C	ENSP00000251808.3:p.Ile482Thr
ENST00000395927.1:c.1397T>C	ENSP00000379260.1:p.Ile466Thr
ENST00000517674.5:n.100T>C
NM_024915.3:c.1445T>C	NP_079191.2:p.Ile482Thr
XM_011517305.1:c.1397T>C	XP_011515607.1:p.Ile466Thr
XM_011517306.1:c.1397T>C	XP_011515608.1:p.Ile466Thr
XM_011517307.1:c.1445T>C	XP_011515609.1:p.Ile482Thr
NM_001330593.1:c.1397T>C	NP_001317522.1:p.Ile466Thr
XM_011517306.3:c.1397T>C	XP_011515608.1:p.Ile466Thr
XM_011517307.3:c.1445T>C	XP_011515609.1:p.Ile482Thr
NM_001330593.2:c.1397T>C	NP_001317522.1:p.Ile466Thr
NM_024915.4:c.1445T>C MANE Select	NP_079191.2:p.Ile482Thr