Canonical Allele Identifier: CA228435

Gene: VWF

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

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