Canonical Allele Identifier: CA249008925

Gene: VWA8

Linked Data

• dbSNP Id: rs1007204964
• gnomAD v3: 13-41931453-T-C
• gnomAD v4: 13-41931453-T-C
• MyVariant Identifiers: chr13:g.42505589T>C (hg19) ; chr13:g.41931453T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.41931453T>C , CM000675.2:g.41931453T>C	GRCh38
NC_000013.10:g.42505589T>C , CM000675.1:g.42505589T>C	GRCh37
NC_000013.9:g.41403589T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000379310.8:c.241+18483A>G MANE Select	ENSP00000368612.3:n.241+18483A>G
ENST00000281496.6:c.241+18483A>G	ENSP00000281496.6:n.241+18483A>G
ENST00000379310.7:c.241+18483A>G	ENSP00000368612.3:n.241+18483A>G
NM_001009814.1:c.241+18483A>G	NP_001009814.1:n.241+18483A>G
NM_015058.1:c.241+18483A>G	NP_055873.1:n.241+18483A>G
XM_011535006.1:c.-48+18483A>G	XP_011533308.1:n.-48+18483A>G
XM_011535007.1:c.241+18483A>G	XP_011533309.1:n.241+18483A>G
XM_011535007.3:c.241+18483A>G	XP_011533309.1:n.241+18483A>G
XM_017020469.2:c.58+5862A>G	XP_016875958.1:n.58+5862A>G
XM_017020470.2:c.241+18483A>G	XP_016875959.1:n.241+18483A>G
XM_017020471.2:c.241+18483A>G	XP_016875960.1:n.241+18483A>G
XM_017020474.2:c.241+18483A>G	XP_016875963.1:n.241+18483A>G
XR_001749518.2:n.972+18483A>G
NM_015058.2:c.241+18483A>G MANE Select	NP_055873.1:n.241+18483A>G
NM_001009814.2:c.241+18483A>G	NP_001009814.1:n.241+18483A>G