Canonical Allele Identifier: CA175600
Gene: CSRP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 163009
ClinVar RCV Id: RCV000150367 RCV000498289 RCV000532109 RCV000769299 RCV001254750 RCV001528571 RCV004019803
dbSNP Id: rs377066670
ExAC: 11:19206570 C / T
gnomAD v2: 11-19206570-C-T
gnomAD v3: 11-19185023-C-T
gnomAD v4: 11-19185023-C-T
COSMIC: COSM1703694
MyVariant Identifiers: chr11:g.19206570C>T (hg19) chr11:g.19185023C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.19185023C>T , CM000673.2:g.19185023C>T GRCh38
NC_000011.9:g.19206570C>T , CM000673.1:g.19206570C>T GRCh37
NC_000011.8:g.19163146C>T NCBI36
NG_011932.2:g.30551G>A , LRG_440:g.30551G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265968.9:c.437G>A MANE Select ENSP00000265968.3:p.Arg146His
ENST00000533783.2:c.437G>A ENSP00000431813.1:p.Arg146His
ENST00000647990.1:c.304G>A ENSP00000496798.1:p.Ala102Thr
ENST00000648719.1:c.135G>A ENSP00000497633.1:p.Pro45=
ENST00000649235.1:c.437G>A ENSP00000497388.1:p.Arg146His
ENST00000649842.1:c.268G>A ENSP00000497531.1:p.Ala90Thr
ENST00000265968.7:c.437G>A ENSP00000265968.3:p.Arg146His
ENST00000533783.1:c.437G>A ENSP00000431813.1:p.Arg146His
NM_003476.4:c.437G>A NP_003467.1:p.Arg146His
XM_024448698.1:c.268G>A XP_024304466.1:p.Ala90Thr
NM_001369404.1:c.268G>A NP_001356333.1:p.Ala90Thr
NM_003476.5:c.437G>A MANE Select NP_003467.1:p.Arg146His
Search 100 bp 5'
Search 100 bp 3'