Canonical Allele Identifier: CA6190851
Gene: SERPINH1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.75566949A>C
GRCh37 chr11:g.75277994A>C
gnomAD v2:
11:75277994 A / C
gnomAD v3:
11:75566949 A / C
gnomAD v4:
chr11-75566949-A-C
Joint Max Group AF 0.0001504 (NFE)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.00015516 (NFE)
ClinVar RCV:
RCV000357410
RCV002056240
ClinVar Variation:
306106
dbSNP:
764723506
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.75566949A>C , CM000673.2:g.75566949A>C GRCh38
NC_000011.9:g.75277994A>C , CM000673.1:g.75277994A>C GRCh37
NC_000011.8:g.74955642A>C NCBI36
NG_012052.1:g.9825A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358171.8:c.600A>C MANE Select ENSP00000350894.4:p.Leu200=
ENST00000533449.6:c.600A>C ENSP00000431827.2:p.Leu200=
ENST00000649490.1:c.600A>C ENSP00000497544.1:p.Leu200=
ENST00000358171.7:c.600A>C ENSP00000350894.3:p.Leu200=
ENST00000524558.5:c.600A>C ENSP00000434412.1:p.Leu200=
ENST00000525611.5:c.600A>C ENSP00000435452.1:p.Leu200=
ENST00000526397.5:c.600A>C ENSP00000434964.1:p.Leu200=
ENST00000528760.1:c.600A>C ENSP00000437108.1:p.Leu200=
ENST00000530284.5:c.600A>C ENSP00000436305.1:p.Leu200=
ENST00000532356.5:c.600A>C ENSP00000436040.1:p.Leu200=
ENST00000533603.5:c.600A>C ENSP00000434657.1:p.Leu200=
NM_001207014.1:c.600A>C NP_001193943.1:p.Leu200=
NM_001235.3:c.600A>C NP_001226.2:p.Leu200=
XM_006718729.1:c.600A>C XP_006718792.1:p.Leu200=
XM_011545326.1:c.600A>C XP_011543628.1:p.Leu200=
XM_011545327.1:c.600A>C XP_011543629.1:p.Leu200=
XM_024448756.1:c.600A>C XP_024304524.1:p.Leu200=
NM_001207014.2:c.600A>C NP_001193943.1:p.Leu200=
NM_001235.5:c.600A>C MANE Select NP_001226.2:p.Leu200=
NM_001207014.3:c.600A>C NP_001193943.1:p.Leu200=
Search 100 bp 5'
Search 100 bp 3'