Canonical Allele Identifier: CA690489850
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1234989376
gnomAD v3: 12-6031744-A-G
gnomAD v4: 12-6031744-A-G
MyVariant Identifiers: chr12:g.6140910A>G (hg19) chr12:g.6031744A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6031744A>G , CM000674.2:g.6031744A>G GRCh38
NC_000012.11:g.6140910A>G , CM000674.1:g.6140910A>G GRCh37
NC_000012.10:g.6011171A>G NCBI36
NG_009072.1:g.97927T>C
NG_009072.2:g.97927T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2686-166T>C MANE Select ENSP00000261405.5:n.2686-166T>C
ENST00000261405.9:c.2686-166T>C ENSP00000261405.5:n.2686-166T>C
ENST00000538635.5:n.421-37810T>C
NM_000552.3:c.2686-166T>C NP_000543.2:n.2686-166T>C
NM_000552.4:c.2686-166T>C NP_000543.2:n.2686-166T>C
NM_000552.5:c.2686-166T>C MANE Select NP_000543.3:n.2686-166T>C
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