Canonical Allele Identifier: CA4830630

Gene: GRHL2

Linked Data

• ClinVar Variation Id: 1283539
• ClinVar RCV Id: RCV001696683
• dbSNP Id: rs77186832
• ExAC: 8:102656470 G / A
• gnomAD v2: 8-102656470-G-A
• gnomAD v3: 8-101644242-G-A
• gnomAD v4: 8-101644242-G-A
• MyVariant Identifiers: chr8:g.102656470G>A (hg19) ; chr8:g.101644242G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101644242G>A , CM000670.2:g.101644242G>A	GRCh38
NC_000008.10:g.102656470G>A , CM000670.1:g.102656470G>A	GRCh37
NC_000008.9:g.102725646G>A	NCBI36
NG_011971.1:g.156803G>A
NG_011971.2:g.156803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.1612+17G>A MANE Select	ENSP00000495564.1:n.1612+17G>A
ENST00000251808.7:c.1612+17G>A	ENSP00000251808.3:n.1612+17G>A
ENST00000395927.1:c.1564+17G>A	ENSP00000379260.1:n.1564+17G>A
ENST00000474338.1:n.254+17G>A
ENST00000517674.5:n.267+17G>A
NM_024915.3:c.1612+17G>A	NP_079191.2:n.1612+17G>A
XM_011517305.1:c.1564+17G>A	XP_011515607.1:n.1564+17G>A
XM_011517306.1:c.1564+17G>A	XP_011515608.1:n.1564+17G>A
XM_011517307.1:c.1612+17G>A	XP_011515609.1:n.1612+17G>A
NM_001330593.1:c.1564+17G>A	NP_001317522.1:n.1564+17G>A
XM_011517306.3:c.1564+17G>A	XP_011515608.1:n.1564+17G>A
XM_011517307.3:c.1612+17G>A	XP_011515609.1:n.1612+17G>A
NM_001330593.2:c.1564+17G>A	NP_001317522.1:n.1564+17G>A
NM_024915.4:c.1612+17G>A MANE Select	NP_079191.2:n.1612+17G>A