Canonical Allele Identifier: CA10641347
Gene: SERPINA1 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.94377481A>G
GRCh37 chr14:g.94843818A>G
gnomAD v2:
14:94843818 A / G
gnomAD v3:
14:94377481 A / G
gnomAD v4:
chr14-94377481-A-G
Joint Max Group AF 0.76280177 (AFR)
Genomes Max Group AF 0.76276868 (AFR)
Exomes Max Group AF 0.49877729 (NFE)
ClinVar RCV:
RCV000342331
ClinVar Variation:
315008
dbSNP:
1243166
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94377481A>G , CM000676.2:g.94377481A>G GRCh38
NC_000014.8:g.94843818A>G , CM000676.1:g.94843818A>G GRCh37
NC_000014.7:g.93913571A>G NCBI36
NG_008290.1:g.18212T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393087.9:c.*968T>C MANE Select ENSP00000376802.4:n.*968T>C
ENST00000355814.8:c.*968T>C ENSP00000348068.4:n.*968T>C
ENST00000437397.5:c.*968T>C ENSP00000408474.1:n.*968T>C
ENST00000440909.5:c.*968T>C ENSP00000390299.1:n.*968T>C
ENST00000448921.5:c.*968T>C ENSP00000416066.1:n.*968T>C
NM_000295.4:c.*968T>C NP_000286.3:n.*968T>C
NM_001002235.2:c.*968T>C NP_001002235.1:n.*968T>C
NM_001002236.2:c.*968T>C NP_001002236.1:n.*968T>C
NM_001127700.1:c.*968T>C NP_001121172.1:n.*968T>C
NM_001127701.1:c.*968T>C NP_001121173.1:n.*968T>C
NM_001127702.1:c.*968T>C NP_001121174.1:n.*968T>C
NM_001127703.1:c.*968T>C NP_001121175.1:n.*968T>C
NM_001127704.1:c.*968T>C NP_001121176.1:n.*968T>C
NM_001127705.1:c.*968T>C NP_001121177.1:n.*968T>C
NM_001127706.1:c.*968T>C NP_001121178.1:n.*968T>C
NM_001127707.1:c.*968T>C NP_001121179.1:n.*968T>C
NM_000295.5:c.*968T>C MANE Select NP_000286.3:n.*968T>C
NM_001002235.3:c.*968T>C NP_001002235.1:n.*968T>C
NM_001002236.3:c.*968T>C NP_001002236.1:n.*968T>C
NM_001127700.2:c.*968T>C NP_001121172.1:n.*968T>C
NM_001127701.2:c.*968T>C NP_001121173.1:n.*968T>C
NM_001127702.2:c.*968T>C NP_001121174.1:n.*968T>C
NM_001127703.2:c.*968T>C NP_001121175.1:n.*968T>C
NM_001127704.2:c.*968T>C NP_001121176.1:n.*968T>C
NM_001127705.2:c.*968T>C NP_001121177.1:n.*968T>C
NM_001127706.2:c.*968T>C NP_001121178.1:n.*968T>C
NM_001127707.2:c.*968T>C NP_001121179.1:n.*968T>C
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