Canonical Allele Identifier: CA2711119

Gene: KCNMB3

Linked Data

• dbSNP Id: rs145985409
• ExAC: 3:178960843 A / G
• gnomAD v2: 3-178960843-A-G
• gnomAD v3: 3-179243055-A-G
• gnomAD v4: 3-179243055-A-G
• MyVariant Identifiers: chr3:g.178960843A>G (hg19) ; chr3:g.179243055A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179243055A>G , CM000665.2:g.179243055A>G	GRCh38
NC_000003.11:g.178960843A>G , CM000665.1:g.178960843A>G	GRCh37
NC_000003.10:g.180443537A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392685.7:c.677T>C MANE Select	ENSP00000376451.2:p.Met226Thr
ENST00000314235.9:c.689T>C	ENSP00000319370.5:p.Met230Thr
ENST00000349697.2:c.683T>C	ENSP00000327866.2:p.Met228Thr
ENST00000392685.6:c.677T>C	ENSP00000376451.2:p.Met226Thr
ENST00000392686.6:c.623T>C	ENSP00000376452.2:p.Met208Thr
ENST00000485523.5:c.623T>C	ENSP00000418536.1:p.Met208Thr
ENST00000486944.2:c.152+78T>C	ENSP00000479162.1:n.152+78T>C
ENST00000497599.5:c.453+1440T>C	ENSP00000417091.1:n.453+1440T>C
NM_001163677.1:c.453+1440T>C	NP_001157149.1:n.453+1440T>C
NM_014407.3:c.689T>C	NP_055222.3:p.Met230Thr
NM_171828.2:c.683T>C	NP_741979.1:p.Met228Thr
NM_171829.2:c.623T>C	NP_741980.1:p.Met208Thr
NM_171830.1:c.677T>C	NP_741981.1:p.Met226Thr
NR_028135.1:n.1565T>C
NM_001163677.2:c.453+1440T>C	NP_001157149.1:n.453+1440T>C
NM_171828.3:c.683T>C	NP_741979.1:p.Met228Thr
NM_171829.3:c.623T>C	NP_741980.1:p.Met208Thr
NR_028135.2:n.1565T>C
NM_171830.2:c.677T>C MANE Select	NP_741981.1:p.Met226Thr