Canonical Allele Identifier: CA14368866
Gene: TRPV1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.3571724A>G
GRCh37 chr17:g.3475018A>G
gnomAD v2:
17:3475018 A / G
gnomAD v3:
17:3571724 A / G
gnomAD v4:
chr17-3571724-A-G
Joint Max Group AF 0.45847474 (NFE)
Genomes Max Group AF 0.45541297 (NFE)
Exomes Max Group AF 0.45841961 (NFE)
dbSNP:
224547
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3571724A>G , CM000679.2:g.3571724A>G GRCh38
NC_000017.10:g.3475018A>G , CM000679.1:g.3475018A>G GRCh37
NC_000017.9:g.3421768A>G NCBI36
NG_029716.1:g.42688T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000572705.2:c.2232-85T>C MANE Select ENSP00000459962.1:n.2232-85T>C
ENST00000650505.1:c.*713-85T>C ENSP00000497337.1:n.*713-85T>C
ENST00000310522.5:c.2052-85T>C ENSP00000311692.5:n.2052-85T>C
ENST00000399756.8:c.2232-85T>C ENSP00000382659.4:n.2232-85T>C
ENST00000399759.7:c.2232-85T>C ENSP00000382661.3:n.2232-85T>C
ENST00000425167.6:c.2265-85T>C ENSP00000409627.2:n.2265-85T>C
ENST00000571088.5:c.2232-85T>C ENSP00000461007.1:n.2232-85T>C
ENST00000572705.1:c.2232-85T>C ENSP00000459962.1:n.2232-85T>C
ENST00000574085.5:n.2319-85T>C
ENST00000576351.5:c.2202-85T>C ENSP00000459042.1:n.2202-85T>C
NM_018727.5:c.2232-85T>C NP_061197.4:n.2232-85T>C
NM_080704.3:c.2232-85T>C NP_542435.2:n.2232-85T>C
NM_080705.3:c.2232-85T>C NP_542436.2:n.2232-85T>C
NM_080706.3:c.2232-85T>C NP_542437.2:n.2232-85T>C
NM_080704.4:c.2232-85T>C MANE Select NP_542435.2:n.2232-85T>C
NM_080705.4:c.2232-85T>C NP_542436.2:n.2232-85T>C
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