Canonical Allele Identifier: CA491972054

Gene: CHRNA5

Linked Data

• dbSNP Id: rs2053003235
• gnomAD v4: 15-78590498-T-C
• MyVariant Identifiers: chr15:g.78882840T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78590498T>C , CM000677.2:g.78590498T>C	GRCh38
NC_000015.9:g.78882840T>C , CM000677.1:g.78882840T>C	GRCh37
NC_000015.8:g.76669895T>C	NCBI36
NG_023328.1:g.29979T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299565.9:c.1107T>C MANE Select	ENSP00000299565.5:p.His369=
ENST00000394802.4:c.522+400T>C
ENST00000559554.5:c.458+649T>C	ENSP00000453519.1:n.458+649T>C
ENST00000559576.1:c.137T>C
NM_000745.3:c.1107T>C	NP_000736.2:p.His369=
NM_001307945.1:c.458+649T>C	NP_001294874.1:n.458+649T>C
XM_005254142.2:c.707+400T>C	XP_005254199.1:n.707+400T>C
NM_001307945.2:c.458+649T>C	NP_001294874.1:n.458+649T>C
NM_000745.4:c.1107T>C MANE Select	NP_000736.2:p.His369=
NM_001395171.1:c.1107T>C	NP_001382100.1:p.His369=
NM_001395172.1:c.591+516T>C	NP_001382101.1:n.591+516T>C
NM_001395173.1:c.713+394T>C	NP_001382102.1:n.713+394T>C
NM_001395174.1:c.707+400T>C	NP_001382103.1:n.707+400T>C
NM_001395175.1:c.455+649T>C	NP_001382104.1:n.455+649T>C