Canonical Allele Identifier: CA287004579
Gene: TRPV1 HGNC NCBI

Linked Data

dbSNP Id: rs542146750
gnomAD v3: 17-3589815-T-G
gnomAD v4: 17-3589815-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3589815T>G , CM000679.2:g.3589815T>G GRCh38
NC_000017.10:g.3493109T>G , CM000679.1:g.3493109T>G GRCh37
NC_000017.9:g.3439858T>G NCBI36
NG_029716.1:g.24597A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000572705.2:c.1036A>C MANE Select ENSP00000459962.1:p.Lys346Gln
ENST00000650505.1:c.1036A>C ENSP00000497337.1:p.Lys346Gln
ENST00000310522.5:c.1036A>C ENSP00000311692.5:p.Lys346Gln
ENST00000399756.8:c.1036A>C ENSP00000382659.4:p.Lys346Gln
ENST00000399759.7:c.1036A>C ENSP00000382661.3:p.Lys346Gln
ENST00000425167.6:c.1036A>C ENSP00000409627.2:p.Lys346Gln
ENST00000571088.5:c.1036A>C ENSP00000461007.1:p.Lys346Gln
ENST00000572705.1:c.1036A>C ENSP00000459962.1:p.Lys346Gln
ENST00000572919.1:c.*2320A>C ENSP00000461416.1:n.*2320A>C
ENST00000574085.5:n.1123A>C
ENST00000576351.5:c.1036A>C ENSP00000459042.1:p.Lys346Gln
NM_018727.5:c.1036A>C NP_061197.4:p.Lys346Gln
NM_080704.3:c.1036A>C NP_542435.2:p.Lys346Gln
NM_080705.3:c.1036A>C NP_542436.2:p.Lys346Gln
NM_080706.3:c.1036A>C NP_542437.2:p.Lys346Gln
NM_080704.4:c.1036A>C MANE Select NP_542435.2:p.Lys346Gln
NM_080705.4:c.1036A>C NP_542436.2:p.Lys346Gln