Canonical Allele Identifier: CA638504660

Gene: COMT ARVCF

Linked Data

• dbSNP Id: rs1289399792
• gnomAD v2: 22-19956501-C-G
• gnomAD v3: 22-19968978-C-G
• gnomAD v4: 22-19968978-C-G
• MyVariant Identifiers: chr22:g.19956501C>G (hg19) ; chr22:g.19968978C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19968978C>G , CM000684.2:g.19968978C>G	GRCh38
NC_000022.10:g.19956501C>G , CM000684.1:g.19956501C>G	GRCh37
NC_000022.9:g.18336501C>G	NCBI36
NG_011526.1:g.32239C>G
NG_023326.1:g.52809G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.*242C>G (COMT) MANE Select	ENSP00000354511.6:n.*242C>G
ENST00000676678.1:c.*242C>G (COMT)	ENSP00000503719.1:n.*242C>G
ENST00000677470.1:n.908C>G (COMT)
ENST00000677564.1:n.841C>G (COMT)
ENST00000677675.1:n.858C>G (COMT)
ENST00000678255.1:c.*242C>G (COMT)	ENSP00000504402.1:n.*242C>G
ENST00000678769.1:c.*242C>G (COMT)	ENSP00000503289.1:n.*242C>G
ENST00000678868.1:c.*242C>G (COMT)	ENSP00000503583.1:n.*242C>G
ENST00000678945.1:n.926C>G (COMT)
ENST00000207636.9:c.*516C>G (COMT)	ENSP00000207636.5:n.*516C>G
ENST00000361682.10:c.*242C>G (COMT)	ENSP00000354511.6:n.*242C>G
ENST00000406520.7:c.*242C>G (COMT)	ENSP00000385150.3:n.*242C>G
ENST00000407537.5:c.*242C>G (COMT)	ENSP00000384654.2:n.*242C>G
ENST00000449653.5:c.*242C>G (COMT)	ENSP00000416778.1:n.*242C>G
NM_000754.3:c.*242C>G (COMT)	NP_000745.1:n.*242C>G
NM_001135161.1:c.*242C>G (COMT)	NP_001128633.1:n.*242C>G
NM_001135162.1:c.*242C>G (COMT)	NP_001128634.1:n.*242C>G
NM_007310.2:c.*242C>G (COMT)	NP_009294.1:n.*242C>G
XM_005261242.1:c.2764-1769G>C (ARVCF)	XP_005261299.1:n.2764-1769G>C
XM_006724243.1:c.2782-1769G>C (ARVCF)	XP_006724306.1:n.2782-1769G>C
XM_006724246.2:c.2536-1769G>C (ARVCF)	XP_006724309.1:n.2536-1769G>C
XM_011529886.1:c.*242C>G (COMT)	XP_011528188.1:n.*242C>G
XM_011530179.1:c.2749-1769G>C (ARVCF)	XP_011528481.1:n.2749-1769G>C
XM_011530182.1:c.1348-1769G>C (ARVCF)	XP_011528484.1:n.1348-1769G>C
NM_001362828.1:c.*242C>G (COMT)	NP_001349757.1:n.*242C>G
XM_005261242.3:c.2764-1769G>C (ARVCF)	XP_005261299.1:n.2764-1769G>C
XM_006724243.3:c.2782-1769G>C (ARVCF)	XP_006724306.1:n.2782-1769G>C
XM_006724246.4:c.2536-1769G>C (ARVCF)	XP_006724309.1:n.2536-1769G>C
XM_011529886.2:c.*242C>G (COMT)	XP_011528188.2:n.*242C>G
XM_011530179.3:c.2749-1769G>C (ARVCF)	XP_011528481.1:n.2749-1769G>C
XM_011530182.3:c.1348-1769G>C (ARVCF)	XP_011528484.1:n.1348-1769G>C
XM_017028595.1:c.*242C>G (COMT)	XP_016884084.1:n.*242C>G
XM_024452249.1:c.2536-1769G>C (ARVCF)	XP_024308017.1:n.2536-1769G>C
NM_000754.4:c.*242C>G (COMT) MANE Select	NP_000745.1:n.*242C>G
NM_001135161.2:c.*242C>G (COMT)	NP_001128633.1:n.*242C>G
NM_001135162.2:c.*242C>G (COMT)	NP_001128634.1:n.*242C>G
NM_001362828.2:c.*242C>G (COMT)	NP_001349757.1:n.*242C>G
NM_007310.3:c.*242C>G (COMT)	NP_009294.1:n.*242C>G