Canonical Allele Identifier: CA349336375

Gene: CHRNA1

Linked Data

• MyVariant Identifiers: chr2:g.175614766A>G (hg19) ; chr2:g.174750038A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174750038A>G , CM000664.2:g.174750038A>G	GRCh38
NC_000002.11:g.175614766A>G , CM000664.1:g.175614766A>G	GRCh37
NC_000002.10:g.175323012A>G	NCBI36
NG_008172.1:g.19435T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636168.2:c.421T>C	ENSP00000490338.2:p.Phe141Leu
ENST00000672640.1:c.421T>C	ENSP00000500507.1:p.Phe141Leu
ENST00000261007.9:c.985T>C	ENSP00000261007.5:p.Phe329Leu
ENST00000348749.9:c.910T>C MANE Select	ENSP00000261008.5:p.Phe304Leu
ENST00000409219.5:c.910T>C	ENSP00000386611.1:p.Phe304Leu
ENST00000409542.5:c.664T>C	ENSP00000387026.1:p.Phe222Leu
ENST00000435083.5:c.*554T>C	ENSP00000395805.1:n.*554T>C
NM_000079.3:c.910T>C	NP_000070.1:p.Phe304Leu
NM_001039523.2:c.985T>C	NP_001034612.1:p.Phe329Leu
XM_017003256.1:c.1006T>C	XP_016858745.1:p.Phe336Leu
XM_017003257.1:c.931T>C	XP_016858746.1:p.Phe311Leu
NM_000079.4:c.910T>C MANE Select	NP_000070.1:p.Phe304Leu
NM_001039523.3:c.985T>C	NP_001034612.1:p.Phe329Leu