Canonical Allele Identifier: CA2694709
Gene: SERPINI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 344118
ClinVar RCV Id: RCV000326135 RCV001580080 RCV001691979
dbSNP Id: rs33917740
ExAC: 3:167506937 C / G
gnomAD v2: 3-167506937-C-G
gnomAD v3: 3-167789149-C-G
gnomAD v4: 3-167789149-C-G
MyVariant Identifiers: chr3:g.167506937C>G (hg19) chr3:g.167789149C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.167789149C>G , CM000665.2:g.167789149C>G GRCh38
NC_000003.11:g.167506937C>G , CM000665.1:g.167506937C>G GRCh37
NC_000003.10:g.168989631C>G NCBI36
NG_008217.1:g.58506C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000446050.7:c.21C>G MANE Select ENSP00000397373.2:p.Phe7Leu
ENST00000295777.9:c.21C>G ENSP00000295777.5:p.Phe7Leu
ENST00000446050.6:c.21C>G ENSP00000397373.2:p.Phe7Leu
ENST00000472747.2:c.21C>G ENSP00000420561.2:p.Phe7Leu
ENST00000472941.5:c.21C>G ENSP00000420133.1:p.Phe7Leu
NM_001122752.1:c.21C>G NP_001116224.1:p.Phe7Leu
NM_005025.4:c.21C>G NP_005016.1:p.Phe7Leu
XM_017006618.2:c.21C>G XP_016862107.1:p.Phe7Leu
NM_001122752.2:c.21C>G MANE Select NP_001116224.1:p.Phe7Leu
NM_005025.5:c.21C>G NP_005016.1:p.Phe7Leu
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