Canonical Allele Identifier: CA1024137020

Gene: COMT ARVCF

Linked Data

• dbSNP Id: rs1942603659
• gnomAD v3: 22-19969166-T-C
• gnomAD v4: 22-19969166-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19969166T>C , CM000684.2:g.19969166T>C	GRCh38
NC_000022.10:g.19956689T>C , CM000684.1:g.19956689T>C	GRCh37
NC_000022.9:g.18336689T>C	NCBI36
NG_011526.1:g.32427T>C
NG_023326.1:g.52621A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361682.11:c.*430T>C (COMT) MANE Select	ENSP00000354511.6:n.*430T>C
ENST00000677564.1:n.1029T>C (COMT)
ENST00000678255.1:c.*430T>C (COMT)	ENSP00000504402.1:n.*430T>C
ENST00000678769.1:c.*430T>C (COMT)	ENSP00000503289.1:n.*430T>C
ENST00000678868.1:c.*430T>C (COMT)	ENSP00000503583.1:n.*430T>C
ENST00000678945.1:n.1114T>C (COMT)
ENST00000361682.10:c.*430T>C (COMT)	ENSP00000354511.6:n.*430T>C
NM_000754.3:c.*430T>C (COMT)	NP_000745.1:n.*430T>C
NM_001135161.1:c.*430T>C (COMT)	NP_001128633.1:n.*430T>C
NM_001135162.1:c.*430T>C (COMT)	NP_001128634.1:n.*430T>C
NM_007310.2:c.*430T>C (COMT)	NP_009294.1:n.*430T>C
XM_005261242.1:c.2764-1957A>G (ARVCF)	XP_005261299.1:n.2764-1957A>G
XM_006724243.1:c.2782-1957A>G (ARVCF)	XP_006724306.1:n.2782-1957A>G
XM_006724246.2:c.2536-1957A>G (ARVCF)	XP_006724309.1:n.2536-1957A>G
XM_011530179.1:c.2749-1957A>G (ARVCF)	XP_011528481.1:n.2749-1957A>G
XM_011530182.1:c.1348-1957A>G (ARVCF)	XP_011528484.1:n.1348-1957A>G
NM_001362828.1:c.*430T>C (COMT)	NP_001349757.1:n.*430T>C
XM_005261242.3:c.2764-1957A>G (ARVCF)	XP_005261299.1:n.2764-1957A>G
XM_006724243.3:c.2782-1957A>G (ARVCF)	XP_006724306.1:n.2782-1957A>G
XM_006724246.4:c.2536-1957A>G (ARVCF)	XP_006724309.1:n.2536-1957A>G
XM_011530179.3:c.2749-1957A>G (ARVCF)	XP_011528481.1:n.2749-1957A>G
XM_011530182.3:c.1348-1957A>G (ARVCF)	XP_011528484.1:n.1348-1957A>G
XM_024452249.1:c.2536-1957A>G (ARVCF)	XP_024308017.1:n.2536-1957A>G
NM_000754.4:c.*430T>C (COMT) MANE Select	NP_000745.1:n.*430T>C
NM_001135161.2:c.*430T>C (COMT)	NP_001128633.1:n.*430T>C
NM_001135162.2:c.*430T>C (COMT)	NP_001128634.1:n.*430T>C
NM_001362828.2:c.*430T>C (COMT)	NP_001349757.1:n.*430T>C
NM_007310.3:c.*430T>C (COMT)	NP_009294.1:n.*430T>C