Canonical Allele Identifier: CA241426
Gene: SERPINH1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.75566929C>A
GRCh37 chr11:g.75277974C>A
Revel Score:
ENST00000533603 0.211
ENST00000358171 (MANE Select) 0.211
ENST00000526397 0.211
ENST00000421448 0.211
ENST00000530284 0.211
ENST00000532356 0.211
ENST00000524558 0.211
ENST00000525611 0.211
ENST00000528760 0.211
gnomAD v2:
11:75277974 C / A
gnomAD v3:
11:75566929 C / A
gnomAD v4:
chr11-75566929-C-A
Joint Max Group AF 0.00144432 (NFE)
Genomes Max Group AF 0.00118272 (NFE)
Exomes Max Group AF 0.00144817 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.75566929C>A , CM000673.2:g.75566929C>A GRCh38
NC_000011.9:g.75277974C>A , CM000673.1:g.75277974C>A GRCh37
NC_000011.8:g.74955622C>A NCBI36
NG_012052.1:g.9805C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358171.8:c.580C>A MANE Select ENSP00000350894.4:p.Arg194Ser
ENST00000533449.6:c.580C>A ENSP00000431827.2:p.Arg194Ser
ENST00000649490.1:c.580C>A ENSP00000497544.1:p.Arg194Ser
ENST00000358171.7:c.580C>A ENSP00000350894.3:p.Arg194Ser
ENST00000524558.5:c.580C>A ENSP00000434412.1:p.Arg194Ser
ENST00000525611.5:c.580C>A ENSP00000435452.1:p.Arg194Ser
ENST00000526397.5:c.580C>A ENSP00000434964.1:p.Arg194Ser
ENST00000528760.1:c.580C>A ENSP00000437108.1:p.Arg194Ser
ENST00000530284.5:c.580C>A ENSP00000436305.1:p.Arg194Ser
ENST00000532356.5:c.580C>A ENSP00000436040.1:p.Arg194Ser
ENST00000533603.5:c.580C>A ENSP00000434657.1:p.Arg194Ser
NM_001207014.1:c.580C>A NP_001193943.1:p.Arg194Ser
NM_001235.3:c.580C>A NP_001226.2:p.Arg194Ser
XM_006718729.1:c.580C>A XP_006718792.1:p.Arg194Ser
XM_011545326.1:c.580C>A XP_011543628.1:p.Arg194Ser
XM_011545327.1:c.580C>A XP_011543629.1:p.Arg194Ser
XM_024448756.1:c.580C>A XP_024304524.1:p.Arg194Ser
NM_001207014.2:c.580C>A NP_001193943.1:p.Arg194Ser
NM_001235.5:c.580C>A MANE Select NP_001226.2:p.Arg194Ser
NM_001207014.3:c.580C>A NP_001193943.1:p.Arg194Ser
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