Canonical Allele Identifier: CA16044148

Gene: GRHL2

Linked Data

• ClinVar Variation Id: 224835
• ClinVar RCV Id: RCV000416587
• dbSNP Id: rs749906501
• MyVariant Identifiers: chr8:g.102555482G>T (hg19) ; chr8:g.101543254G>T (hg38)
• PubMed: PMID:27876815

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101543254G>T , CM000670.2:g.101543254G>T	GRCh38
NC_000008.10:g.102555482G>T , CM000670.1:g.102555482G>T	GRCh37
NC_000008.9:g.102624658G>T	NCBI36
NG_011971.1:g.55815G>T
NG_011971.2:g.55815G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000646743.1:c.34G>T MANE Select	ENSP00000495564.1:p.Val12Leu
ENST00000251808.7:c.34G>T	ENSP00000251808.3:p.Val12Leu
ENST00000395927.1:c.-15G>T	ENSP00000379260.1:n.-15G>T
ENST00000472106.2:n.362G>T
NM_024915.3:c.34G>T	NP_079191.2:p.Val12Leu
XM_011517305.1:c.-15G>T	XP_011515607.1:n.-15G>T
XM_011517306.1:c.-15G>T	XP_011515608.1:n.-15G>T
XM_011517307.1:c.34G>T	XP_011515609.1:p.Val12Leu
NM_001330593.1:c.-15G>T	NP_001317522.1:n.-15G>T
XM_011517306.3:c.-15G>T	XP_011515608.1:n.-15G>T
XM_011517307.3:c.34G>T	XP_011515609.1:p.Val12Leu
NM_001330593.2:c.-15G>T	NP_001317522.1:n.-15G>T
NM_024915.4:c.34G>T MANE Select	NP_079191.2:p.Val12Leu