Canonical Allele Identifier: CA4830765
Gene: GRHL2 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.101666744G>A
GRCh37 chr8:g.102678972G>A
gnomAD v2:
8:102678972 G / A
gnomAD v3:
8:101666744 G / A
gnomAD v4:
chr8-101666744-G-A
Joint Max Group AF 0.53021048 (SAS)
Genomes Max Group AF 0.52382288 (SAS)
Exomes Max Group AF 0.52965735 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.101666744G>A , CM000670.2:g.101666744G>A GRCh38
NC_000008.10:g.102678972G>A , CM000670.1:g.102678972G>A GRCh37
NC_000008.9:g.102748148G>A NCBI36
NG_011971.1:g.179305G>A
NG_011971.2:g.179305G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000646743.1:c.*41G>A MANE Select ENSP00000495564.1:n.*41G>A
ENST00000251808.7:c.*41G>A ENSP00000251808.3:n.*41G>A
ENST00000395927.1:c.*41G>A ENSP00000379260.1:n.*41G>A
NM_024915.3:c.*41G>A NP_079191.2:n.*41G>A
XM_011517305.1:c.*41G>A XP_011515607.1:n.*41G>A
XM_011517306.1:c.*41G>A XP_011515608.1:n.*41G>A
XM_011517307.1:c.1763+2226G>A XP_011515609.1:n.1763+2226G>A
NM_001330593.1:c.*41G>A NP_001317522.1:n.*41G>A
XM_011517306.3:c.*41G>A XP_011515608.1:n.*41G>A
XM_011517307.3:c.1763+2226G>A XP_011515609.1:n.1763+2226G>A
NM_001330593.2:c.*41G>A NP_001317522.1:n.*41G>A
NM_024915.4:c.*41G>A MANE Select NP_079191.2:n.*41G>A
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