Canonical Allele Identifier: CA4830174
Gene: GRHL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 508097
ClinVar RCV Id: RCV000988105 RCV000614137 RCV001702810 RCV001703207
dbSNP Id: rs515622
ExAC: 8:102504974 C / G
gnomAD v2: 8-102504974-C-G
gnomAD v3: 8-101492746-C-G
gnomAD v4: 8-101492746-C-G
MyVariant Identifiers: chr8:g.102504974C>G (hg19) chr8:g.101492746C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.101492746C>G , CM000670.2:g.101492746C>G GRCh38
NC_000008.10:g.102504974C>G , CM000670.1:g.102504974C>G GRCh37
NC_000008.9:g.102574150C>G NCBI36
NG_011971.1:g.5307C>G
NG_011971.2:g.5307C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000646743.1:c.-24C>G MANE Select ENSP00000495564.1:n.-24C>G
ENST00000251808.7:c.-24C>G ENSP00000251808.3:n.-24C>G
ENST00000472106.2:n.305C>G
ENST00000521085.1:c.-24C>G ENSP00000430473.1:n.-24C>G
NM_024915.3:c.-24C>G NP_079191.2:n.-24C>G
XM_011517306.1:c.-29+160C>G XP_011515608.1:n.-29+160C>G
XM_011517307.1:c.-24C>G XP_011515609.1:n.-24C>G
NM_001330593.1:c.-132C>G NP_001317522.1:n.-132C>G
XM_011517306.3:c.-29+160C>G XP_011515608.1:n.-29+160C>G
XM_011517307.3:c.-24C>G XP_011515609.1:n.-24C>G
XM_024447286.1:c.-328C>G XP_024303054.1:n.-328C>G
NM_001330593.2:c.-132C>G NP_001317522.1:n.-132C>G
NM_024915.4:c.-24C>G MANE Select NP_079191.2:n.-24C>G
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