Canonical Allele Identifier: CA471507335

Gene: RBM20

Linked Data

• ClinVar Variation Id: 470598
• ClinVar RCV Id: RCV000546224 ; RCV002448740
• dbSNP Id: rs1168255004
• gnomAD v2: 10-112572426-C-T
• gnomAD v3: 10-110812668-C-T
• gnomAD v4: 10-110812668-C-T
• COSMIC: COSM914759
• MyVariant Identifiers: chr10:g.112572426C>T (hg19) ; chr10:g.110812668C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110812668C>T , CM000672.2:g.110812668C>T	GRCh38
NC_000010.10:g.112572426C>T , CM000672.1:g.112572426C>T	GRCh37
NC_000010.9:g.112562416C>T	NCBI36
NG_021177.1:g.173272C>T , LRG_382:g.173272C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369519.4:c.2271C>T MANE Select	ENSP00000358532.3:p.Asp757=
ENST00000369519.3:c.2271C>T	ENSP00000358532.3:p.Asp757=
NM_001134363.2:c.2271C>T	NP_001127835.2:p.Asp757=
XM_011539697.1:c.1887C>T	XP_011537999.1:p.Asp629=
XM_017016103.2:c.2106C>T	XP_016871592.1:p.Asp702=
XM_017016104.2:c.1887C>T	XP_016871593.1:p.Asp629=
NM_001134363.3:c.2271C>T MANE Select	NP_001127835.2:p.Asp757=