Canonical Allele Identifier: CA2617231433
Gene: VWF HGNC NCBI

Linked Data

gnomAD v4: 12-6036305-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036305G>T , CM000674.2:g.6036305G>T GRCh38
NC_000012.11:g.6145471G>T , CM000674.1:g.6145471G>T GRCh37
NC_000012.10:g.6015732G>T NCBI36
NG_009072.1:g.93366C>A
NG_009072.2:g.93366C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.2546+83C>A MANE Select ENSP00000261405.5:n.2546+83C>A
ENST00000261405.9:c.2546+83C>A ENSP00000261405.5:n.2546+83C>A
ENST00000538635.5:n.421-42371C>A
NM_000552.3:c.2546+83C>A NP_000543.2:n.2546+83C>A
NM_000552.4:c.2546+83C>A NP_000543.2:n.2546+83C>A
NM_000552.5:c.2546+83C>A MANE Select NP_000543.3:n.2546+83C>A
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