Canonical Allele Identifier: CA159702156
Gene: SEPTIN14 HGNC NCBI

Linked Data

dbSNP Id: rs11981883
gnomAD v2: 7-55891766-T-G
gnomAD v3: 7-55824073-T-G
gnomAD v4: 7-55824073-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55824073T>G , CM000669.2:g.55824073T>G GRCh38
NC_000007.13:g.55891766T>G , CM000669.1:g.55891766T>G GRCh37
NC_000007.12:g.55859260T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000388975.4:c.721-4850A>C MANE Select ENSP00000373627.3:n.721-4850A>C
ENST00000388975.3:c.721-4850A>C ENSP00000373627.3:n.721-4850A>C
NM_207366.2:c.721-4850A>C NP_997249.2:n.721-4850A>C
XM_011515373.1:c.721-4850A>C XP_011513675.1:n.721-4850A>C
XM_011515373.2:c.721-4850A>C XP_011513675.1:n.721-4850A>C
NM_207366.3:c.721-4850A>C MANE Select NP_997249.2:n.721-4850A>C