Canonical Allele Identifier: CA322112027

Gene: COMT

Linked Data

• dbSNP Id: rs892314685
• gnomAD v2: 22-19931048-C-G
• gnomAD v3: 22-19943525-C-G
• gnomAD v4: 22-19943525-C-G
• MyVariant Identifiers: chr22:g.19931048C>G (hg19) ; chr22:g.19943525C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19943525C>G , CM000684.2:g.19943525C>G	GRCh38
NC_000022.10:g.19931048C>G , CM000684.1:g.19931048C>G	GRCh37
NC_000022.9:g.18311048C>G	NCBI36
NG_011526.1:g.6786C>G
NG_011835.1:g.3312G>C , LRG_417:g.3312G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.-92+1628C>G MANE Select	ENSP00000354511.6:n.-92+1628C>G
ENST00000428707.2:c.-92+1628C>G	ENSP00000387695.2:n.-92+1628C>G
ENST00000676678.1:c.-92+1950C>G	ENSP00000503719.1:n.-92+1950C>G
ENST00000678769.1:c.-92+1628C>G	ENSP00000503289.1:n.-92+1628C>G
ENST00000678868.1:c.-276+1628C>G	ENSP00000503583.1:n.-276+1628C>G
ENST00000361682.10:c.-92+1628C>G	ENSP00000354511.6:n.-92+1628C>G
ENST00000403184.5:c.-92+1628C>G	ENSP00000383966.1:n.-92+1628C>G
ENST00000403710.5:c.-386+1628C>G	ENSP00000385917.1:n.-386+1628C>G
ENST00000407537.5:c.-270+1628C>G	ENSP00000384654.2:n.-270+1628C>G
ENST00000467943.5:n.105+1628C>G
NM_000754.3:c.-92+1628C>G	NP_000745.1:n.-92+1628C>G
XM_011529887.1:c.-92+1628C>G	XP_011528189.1:n.-92+1628C>G
XM_011529890.1:c.-386+1628C>G	XP_011528192.1:n.-386+1628C>G
XM_011529891.1:c.-386+1350C>G	XP_011528193.1:n.-386+1350C>G
NM_001362828.1:c.-386+1628C>G	NP_001349757.1:n.-386+1628C>G
XM_017028595.1:c.-386+1350C>G	XP_016884084.1:n.-386+1350C>G
NM_000754.4:c.-92+1628C>G MANE Select	NP_000745.1:n.-92+1628C>G
NM_001362828.2:c.-386+1628C>G	NP_001349757.1:n.-386+1628C>G