Canonical Allele Identifier: CA2711115

Gene: KCNMB3

Linked Data

• dbSNP Id: rs766653783
• ExAC: 3:178960819 G / A
• gnomAD v2: 3-178960819-G-A
• gnomAD v3: 3-179243031-G-A
• gnomAD v4: 3-179243031-G-A
• MyVariant Identifiers: chr3:g.178960819G>A (hg19) ; chr3:g.179243031G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179243031G>A , CM000665.2:g.179243031G>A	GRCh38
NC_000003.11:g.178960819G>A , CM000665.1:g.178960819G>A	GRCh37
NC_000003.10:g.180443513G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392685.7:c.701C>T MANE Select	ENSP00000376451.2:p.Ser234Phe
ENST00000314235.9:c.713C>T	ENSP00000319370.5:p.Ser238Phe
ENST00000349697.2:c.707C>T	ENSP00000327866.2:p.Ser236Phe
ENST00000392685.6:c.701C>T	ENSP00000376451.2:p.Ser234Phe
ENST00000392686.6:c.647C>T	ENSP00000376452.2:p.Ser216Phe
ENST00000485523.5:c.647C>T	ENSP00000418536.1:p.Ser216Phe
ENST00000486944.2:c.152+102C>T	ENSP00000479162.1:n.152+102C>T
ENST00000497599.5:c.453+1464C>T	ENSP00000417091.1:n.453+1464C>T
NM_001163677.1:c.453+1464C>T	NP_001157149.1:n.453+1464C>T
NM_014407.3:c.713C>T	NP_055222.3:p.Ser238Phe
NM_171828.2:c.707C>T	NP_741979.1:p.Ser236Phe
NM_171829.2:c.647C>T	NP_741980.1:p.Ser216Phe
NM_171830.1:c.701C>T	NP_741981.1:p.Ser234Phe
NR_028135.1:n.1589C>T
NM_001163677.2:c.453+1464C>T	NP_001157149.1:n.453+1464C>T
NM_171828.3:c.707C>T	NP_741979.1:p.Ser236Phe
NM_171829.3:c.647C>T	NP_741980.1:p.Ser216Phe
NR_028135.2:n.1589C>T
NM_171830.2:c.701C>T MANE Select	NP_741981.1:p.Ser234Phe