Canonical Allele Identifier: CA12967692
Gene: SVEP1 HGNC NCBI

Linked Data

dbSNP Id: rs7042161
gnomAD v2: 9-113197263-T-C
gnomAD v3: 9-110434983-T-C
gnomAD v4: 9-110434983-T-C
MyVariant Identifiers: chr9:g.113197263T>C (hg19) chr9:g.110434983T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.110434983T>C , CM000671.2:g.110434983T>C GRCh38
NC_000009.11:g.113197263T>C , CM000671.1:g.113197263T>C GRCh37
NC_000009.10:g.112237084T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000374469.6:c.4888+258A>G MANE Select ENSP00000363593.2:n.4888+258A>G
ENST00000374469.5:c.4888+258A>G ENSP00000363593.2:n.4888+258A>G
ENST00000401783.6:c.4897+258A>G ENSP00000384917.3:n.4897+258A>G
NM_153366.3:c.4888+258A>G NP_699197.3:n.4888+258A>G
NM_153366.4:c.4888+258A>G MANE Select NP_699197.3:n.4888+258A>G
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