Canonical Allele Identifier: CA216427
Gene: TRPV5 HGNC NCBI

Linked Data

ClinVar Variation Id: 64572
ClinVar RCV Id: RCV000054759
dbSNP Id: rs387907544
ExAC: 7:142626540 C / T
gnomAD v2: 7-142626540-C-T
gnomAD v3: 7-142929445-C-T
gnomAD v4: 7-142929445-C-T
COSMIC: COSM294916
MyVariant Identifiers: chr7:g.142626540C>T (hg19) chr7:g.142929445C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142929445C>T , CM000669.2:g.142929445C>T GRCh38
NC_000007.13:g.142626540C>T , CM000669.1:g.142626540C>T GRCh37
NC_000007.12:g.142336662C>T NCBI36
NG_046912.1:g.9279G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265310.6:c.470G>A MANE Select ENSP00000265310.1:p.Arg157His
ENST00000265310.5:c.470G>A ENSP00000265310.1:p.Arg157His
ENST00000439304.5:c.452G>A ENSP00000406361.1:p.Arg151His
ENST00000442623.1:c.470G>A ENSP00000406572.1:p.Arg157His
NM_019841.6:c.470G>A NP_062815.3:p.Arg157His
NM_019841.7:c.470G>A MANE Select NP_062815.3:p.Arg157His
Search 100 bp 5'
Search 100 bp 3'