Canonical Allele Identifier: CA120663
Gene: SERPINA7 HGNC NCBI
COSMIC:
COSM4416167 (not active)
MyVariant.info:
GRCh38 chrX:g.106034370C>A
GRCh37 chrX:g.105278361C>A
Revel Score:
ENST00000327674 0.353
ENST00000372563 (MANE Select) 0.353
gnomAD v2:
X:105278361 C / A
gnomAD v3:
X:106034370 C / A
gnomAD v4:
chrX-106034370-C-A
Joint Max Group AF 0.28380847 (SAS)
Genomes Max Group AF 0.2769033 (SAS)
Exomes Max Group AF 0.28340208 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.106034370C>A , CM000685.2:g.106034370C>A GRCh38
NC_000023.10:g.105278361C>A , CM000685.1:g.105278361C>A GRCh37
NC_000023.9:g.105165017C>A NCBI36
NG_021252.1:g.9358G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372563.2:c.909G>T MANE Select ENSP00000361644.1:p.Leu303Phe
ENST00000327674.8:c.909G>T ENSP00000329374.4:p.Leu303Phe
ENST00000372563.1:c.909G>T ENSP00000361644.1:p.Leu303Phe
ENST00000487487.1:n.182G>T
NM_000354.5:c.909G>T NP_000345.2:p.Leu303Phe
XM_005262180.3:c.909G>T XP_005262237.1:p.Leu303Phe
XM_006724683.1:c.909G>T XP_006724746.1:p.Leu303Phe
XM_005262180.4:c.909G>T XP_005262237.1:p.Leu303Phe
XM_006724683.2:c.909G>T XP_006724746.1:p.Leu303Phe
NM_000354.6:c.909G>T MANE Select NP_000345.2:p.Leu303Phe
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