Canonical Allele Identifier: CA609673666

Gene: VWA8

Linked Data

• dbSNP Id: rs1406161312
• gnomAD v2: 13-42505708-C-G
• gnomAD v3: 13-41931572-C-G
• gnomAD v4: 13-41931572-C-G
• MyVariant Identifiers: chr13:g.42505708C>G (hg19) ; chr13:g.41931572C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.41931572C>G , CM000675.2:g.41931572C>G	GRCh38
NC_000013.10:g.42505708C>G , CM000675.1:g.42505708C>G	GRCh37
NC_000013.9:g.41403708C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000379310.8:c.241+18364G>C MANE Select	ENSP00000368612.3:n.241+18364G>C
ENST00000281496.6:c.241+18364G>C	ENSP00000281496.6:n.241+18364G>C
ENST00000379310.7:c.241+18364G>C	ENSP00000368612.3:n.241+18364G>C
NM_001009814.1:c.241+18364G>C	NP_001009814.1:n.241+18364G>C
NM_015058.1:c.241+18364G>C	NP_055873.1:n.241+18364G>C
XM_011535006.1:c.-48+18364G>C	XP_011533308.1:n.-48+18364G>C
XM_011535007.1:c.241+18364G>C	XP_011533309.1:n.241+18364G>C
XM_011535007.3:c.241+18364G>C	XP_011533309.1:n.241+18364G>C
XM_017020469.2:c.58+5743G>C	XP_016875958.1:n.58+5743G>C
XM_017020470.2:c.241+18364G>C	XP_016875959.1:n.241+18364G>C
XM_017020471.2:c.241+18364G>C	XP_016875960.1:n.241+18364G>C
XM_017020474.2:c.241+18364G>C	XP_016875963.1:n.241+18364G>C
XR_001749518.2:n.972+18364G>C
NM_015058.2:c.241+18364G>C MANE Select	NP_055873.1:n.241+18364G>C
NM_001009814.2:c.241+18364G>C	NP_001009814.1:n.241+18364G>C