Canonical Allele Identifier: CA218632615

Gene: CSRP3

Linked Data

• ClinVar Variation Id: 514197
• ClinVar RCV Id: RCV000609025 ; RCV003767670
• dbSNP Id: rs373822409
• gnomAD v4: 11-19184935-T-A
• MyVariant Identifiers: chr11:g.19206482T>A (hg19) ; chr11:g.19184935T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.19184935T>A , CM000673.2:g.19184935T>A	GRCh38
NC_000011.9:g.19206482T>A , CM000673.1:g.19206482T>A	GRCh37
NC_000011.8:g.19163058T>A	NCBI36
NG_011932.2:g.30639A>T , LRG_440:g.30639A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265968.9:c.508+17A>T MANE Select	ENSP00000265968.3:n.508+17A>T
ENST00000533783.2:c.508+17A>T	ENSP00000431813.1:n.508+17A>T
ENST00000647990.1:c.375+17A>T	ENSP00000496798.1:n.375+17A>T
ENST00000648719.1:c.*26+17A>T	ENSP00000497633.1:n.*26+17A>T
ENST00000649235.1:c.508+17A>T	ENSP00000497388.1:n.508+17A>T
ENST00000649842.1:c.339+17A>T	ENSP00000497531.1:n.339+17A>T
ENST00000265968.7:c.508+17A>T	ENSP00000265968.3:n.508+17A>T
ENST00000533783.1:c.508+17A>T	ENSP00000431813.1:n.508+17A>T
NM_003476.4:c.508+17A>T	NP_003467.1:n.508+17A>T
XM_024448698.1:c.339+17A>T	XP_024304466.1:n.339+17A>T
NM_001369404.1:c.339+17A>T	NP_001356333.1:n.339+17A>T
NM_003476.5:c.508+17A>T MANE Select	NP_003467.1:n.508+17A>T