Canonical Allele Identifier: CA998404367
Gene: CA6 HGNC NCBI

Linked Data

dbSNP Id: rs758632598
gnomAD v3: 1-8957289-C-A
gnomAD v4: 1-8957289-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.8957289C>A , CM000663.2:g.8957289C>A GRCh38
NC_000001.10:g.9017348C>A , CM000663.1:g.9017348C>A GRCh37
NC_000001.9:g.8939935C>A NCBI36
NG_033975.1:g.16456C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377443.7:c.408+4C>A MANE Select ENSP00000366662.2:n.408+4C>A
ENST00000377436.6:c.408+4C>A ENSP00000366654.3:n.408+4C>A
ENST00000377442.3:c.228+4C>A ENSP00000366661.2:n.228+4C>A
ENST00000377443.6:c.408+4C>A ENSP00000366662.2:n.408+4C>A
ENST00000476083.1:n.99-1621C>A
ENST00000549778.5:c.312+4C>A ENSP00000447108.1:n.312+4C>A
NM_001215.3:c.408+4C>A NP_001206.2:n.408+4C>A
NM_001270500.1:c.408+4C>A NP_001257429.1:n.408+4C>A
NM_001270501.1:c.228+4C>A NP_001257430.1:n.228+4C>A
NM_001270502.1:c.25-1621C>A NP_001257431.1:n.25-1621C>A
XM_011542083.1:c.420+4C>A XP_011540385.1:n.420+4C>A
XM_011542084.1:c.420+4C>A XP_011540386.1:n.420+4C>A
XM_011542083.3:c.420+4C>A XP_011540385.1:n.420+4C>A
XM_011542084.3:c.420+4C>A XP_011540386.1:n.420+4C>A
NM_001215.4:c.408+4C>A MANE Select NP_001206.2:n.408+4C>A
NM_001270500.2:c.408+4C>A NP_001257429.1:n.408+4C>A
NM_001270501.2:c.228+4C>A NP_001257430.1:n.228+4C>A
NM_001270502.2:c.25-1621C>A NP_001257431.1:n.25-1621C>A