Canonical Allele Identifier: CA944316137

Gene: VWF

Linked Data

• dbSNP Id: rs1944334626
• gnomAD v3: 12-6036197-G-A
• gnomAD v4: 12-6036197-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6036197G>A , CM000674.2:g.6036197G>A	GRCh38
NC_000012.11:g.6145363G>A , CM000674.1:g.6145363G>A	GRCh37
NC_000012.10:g.6015624G>A	NCBI36
NG_009072.1:g.93474C>T
NG_009072.2:g.93474C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2546+191C>T MANE Select	ENSP00000261405.5:n.2546+191C>T
ENST00000261405.9:c.2546+191C>T	ENSP00000261405.5:n.2546+191C>T
ENST00000538635.5:n.421-42263C>T
NM_000552.3:c.2546+191C>T	NP_000543.2:n.2546+191C>T
NM_000552.4:c.2546+191C>T	NP_000543.2:n.2546+191C>T
NM_000552.5:c.2546+191C>T MANE Select	NP_000543.3:n.2546+191C>T