Canonical Allele Identifier: CA228435
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 100275
ClinVar RCV Id: RCV000086671 RCV000242240 RCV000851980 RCV002243725
dbSNP Id: rs61749368
ExAC: 12:6128892 T / G
gnomAD v2: 12-6128892-T-G
gnomAD v3: 12-6019726-T-G
gnomAD v4: 12-6019726-T-G
MyVariant Identifiers: chr12:g.6128892T>G (hg19) chr12:g.6019726T>G (hg38)
ERepo: CA228435/MONDO:0019565/090
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019726T>G , CM000674.2:g.6019726T>G GRCh38
NC_000012.11:g.6128892T>G , CM000674.1:g.6128892T>G GRCh37
NC_000012.10:g.5999153T>G NCBI36
NG_009072.1:g.109945A>C
NG_009072.2:g.109945A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3692A>C MANE Select ENSP00000261405.5:p.Asn1231Thr
ENST00000261405.9:c.3692A>C ENSP00000261405.5:p.Asn1231Thr
ENST00000538635.5:n.421-25792A>C
ENST00000539641.1:n.490A>C
NM_000552.3:c.3692A>C NP_000543.2:p.Asn1231Thr
NM_000552.4:c.3692A>C NP_000543.2:p.Asn1231Thr
NM_000552.5:c.3692A>C MANE Select NP_000543.3:p.Asn1231Thr
Search 100 bp 5'
Search 100 bp 3'