Canonical Allele Identifier: CA120660
Gene: SERPINA7 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.106035268A>G
GRCh37 chrX:g.105279259A>G
Revel Score:
ENST00000327674 0.629
ENST00000372563 (MANE Select) 0.629
gnomAD v2:
X:105279259 A / G
gnomAD v4:
chrX-106035268-A-G
Joint Max Group AF 8.9e-7 (NFE)
Exomes Max Group AF 9.5e-7 (NFE)
ClinVar RCV:
RCV000010437
ClinVar Variation:
9783
dbSNP:
28937312
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.106035268A>G , CM000685.2:g.106035268A>G GRCh38
NC_000023.10:g.105279259A>G , CM000685.1:g.105279259A>G GRCh37
NC_000023.9:g.105165915A>G NCBI36
NG_021252.1:g.8460T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372563.2:c.740T>C MANE Select ENSP00000361644.1:p.Leu247Pro
ENST00000327674.8:c.740T>C ENSP00000329374.4:p.Leu247Pro
ENST00000372563.1:c.740T>C ENSP00000361644.1:p.Leu247Pro
ENST00000487487.1:n.13T>C
NM_000354.5:c.740T>C NP_000345.2:p.Leu247Pro
XM_005262180.3:c.740T>C XP_005262237.1:p.Leu247Pro
XM_006724683.1:c.740T>C XP_006724746.1:p.Leu247Pro
XM_005262180.4:c.740T>C XP_005262237.1:p.Leu247Pro
XM_006724683.2:c.740T>C XP_006724746.1:p.Leu247Pro
NM_000354.6:c.740T>C MANE Select NP_000345.2:p.Leu247Pro
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