Canonical Allele Identifier: CA304823849

Gene: VAV1

Linked Data

• dbSNP Id: rs2546133
• gnomAD v2: 19-6799677-T-C
• gnomAD v3: 19-6799666-T-C
• gnomAD v4: 19-6799666-T-C
• MyVariant Identifiers: chr19:g.6799677T>C (hg19) ; chr19:g.6799666T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6799666T>C , CM000681.2:g.6799666T>C	GRCh38
NC_000019.9:g.6799677T>C , CM000681.1:g.6799677T>C	GRCh37
NC_000019.8:g.6750677T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000602142.6:c.205-21036T>C MANE Select	ENSP00000472929.1:n.205-21036T>C
ENST00000304076.6:c.205-21036T>C	ENSP00000302269.2:n.205-21036T>C
ENST00000596764.5:c.205-21036T>C	ENSP00000469450.1:n.205-21036T>C
ENST00000599806.5:c.39+15425T>C	ENSP00000472803.1:n.39+15425T>C
ENST00000602142.5:c.205-21036T>C	ENSP00000472929.1:n.205-21036T>C
NM_001258206.1:c.205-21036T>C	NP_001245135.1:n.205-21036T>C
NM_001258207.1:c.205-21036T>C	NP_001245136.1:n.205-21036T>C
NM_005428.3:c.205-21036T>C	NP_005419.2:n.205-21036T>C
XM_005259642.1:c.205-21036T>C	XP_005259699.1:n.205-21036T>C
NM_005428.4:c.205-21036T>C MANE Select	NP_005419.2:n.205-21036T>C
NM_001258206.2:c.205-21036T>C	NP_001245135.1:n.205-21036T>C
NM_001258207.2:c.205-21036T>C	NP_001245136.1:n.205-21036T>C