Canonical Allele Identifier: CA335098

Gene: CSRP3

Linked Data

• ClinVar Variation Id: 201690
• ClinVar RCV Id: RCV000183331
• dbSNP Id: rs144404101
• ExAC: 11:19206481 G / A
• gnomAD v2: 11-19206481-G-A
• gnomAD v3: 11-19184934-G-A
• gnomAD v4: 11-19184934-G-A
• MyVariant Identifiers: chr11:g.19206481G>A (hg19) ; chr11:g.19184934G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.19184934G>A , CM000673.2:g.19184934G>A	GRCh38
NC_000011.9:g.19206481G>A , CM000673.1:g.19206481G>A	GRCh37
NC_000011.8:g.19163057G>A	NCBI36
NG_011932.2:g.30640C>T , LRG_440:g.30640C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265968.9:c.508+18C>T MANE Select	ENSP00000265968.3:n.508+18C>T
ENST00000533783.2:c.508+18C>T	ENSP00000431813.1:n.508+18C>T
ENST00000647990.1:c.375+18C>T	ENSP00000496798.1:n.375+18C>T
ENST00000648719.1:c.*26+18C>T	ENSP00000497633.1:n.*26+18C>T
ENST00000649235.1:c.508+18C>T	ENSP00000497388.1:n.508+18C>T
ENST00000649842.1:c.339+18C>T	ENSP00000497531.1:n.339+18C>T
ENST00000265968.7:c.508+18C>T	ENSP00000265968.3:n.508+18C>T
ENST00000533783.1:c.508+18C>T	ENSP00000431813.1:n.508+18C>T
NM_003476.4:c.508+18C>T	NP_003467.1:n.508+18C>T
XM_024448698.1:c.339+18C>T	XP_024304466.1:n.339+18C>T
NM_001369404.1:c.339+18C>T	NP_001356333.1:n.339+18C>T
NM_003476.5:c.508+18C>T MANE Select	NP_003467.1:n.508+18C>T