Canonical Allele Identifier: CA3038516278
Community Standard Title: NM_172160.3(KCNAB1):c.276-129733G>C
Gene: KCNAB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.156291883G>C , CM000665.2:g.156291883G>C GRCh38
NC_000003.11:g.156009672G>C , CM000665.1:g.156009672G>C GRCh37
NC_000003.10:g.157492366G>C NCBI36
NG_042292.1:g.176336G>C

Transcript Alleles

HGVS Amino-acid Change
NM_172160.3:c.276-129733G>C MANE Select NP_751892.1:n.276-129733G>C
ENST00000490337.6:c.276-129733G>C MANE Select ENSP00000419952.1:n.276-129733G>C
NM_001308217.1:c.276-129733G>C NP_001295146.1:n.276-129733G>C
NM_001308222.1:c.-25G>C NP_001295151.1:n.-25G>C
NM_003471.3:c.243-129733G>C NP_003462.2:n.243-129733G>C
NM_172159.3:c.-25G>C NP_751891.1:n.-25G>C
NM_172160.2:c.276-129733G>C NP_751892.1:n.276-129733G>C
ENST00000302490.12:c.-25G>C ENSP00000305858.8:n.-25G>C
ENST00000389636.9:c.276-129733G>C ENSP00000374287.5:n.276-129733G>C
ENST00000471742.5:c.243-129733G>C ENSP00000418956.1:n.243-129733G>C
ENST00000472028.5:c.30-129733G>C ENSP00000420755.1:n.30-129733G>C
ENST00000475456.5:c.104+18207G>C ENSP00000420221.1:n.104+18207G>C
ENST00000477912.5:n.175-90259G>C
ENST00000478609.5:n.175-129733G>C
ENST00000490337.5:c.276-129733G>C ENSP00000419952.1:n.276-129733G>C
ENST00000618897.4:c.-235G>C ENSP00000484368.1:n.-235G>C
XM_017007171.2:c.30-129733G>C XP_016862660.1:n.30-129733G>C
XM_017007174.2:c.276-129733G>C XP_016862663.1:n.276-129733G>C