Canonical Allele Identifier: CA349336343

Gene: CHRNA1

Linked Data

• MyVariant Identifiers: chr2:g.175614763C>G (hg19) ; chr2:g.174750035C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174750035C>G , CM000664.2:g.174750035C>G	GRCh38
NC_000002.11:g.175614763C>G , CM000664.1:g.175614763C>G	GRCh37
NC_000002.10:g.175323009C>G	NCBI36
NG_008172.1:g.19438G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636168.2:c.424G>C	ENSP00000490338.2:p.Val142Leu
ENST00000672640.1:c.424G>C	ENSP00000500507.1:p.Val142Leu
ENST00000261007.9:c.988G>C	ENSP00000261007.5:p.Val330Leu
ENST00000348749.9:c.913G>C MANE Select	ENSP00000261008.5:p.Val305Leu
ENST00000409219.5:c.913G>C	ENSP00000386611.1:p.Val305Leu
ENST00000409542.5:c.667G>C	ENSP00000387026.1:p.Val223Leu
ENST00000435083.5:c.*557G>C	ENSP00000395805.1:n.*557G>C
NM_000079.3:c.913G>C	NP_000070.1:p.Val305Leu
NM_001039523.2:c.988G>C	NP_001034612.1:p.Val330Leu
XM_017003256.1:c.1009G>C	XP_016858745.1:p.Val337Leu
XM_017003257.1:c.934G>C	XP_016858746.1:p.Val312Leu
NM_000079.4:c.913G>C MANE Select	NP_000070.1:p.Val305Leu
NM_001039523.3:c.988G>C	NP_001034612.1:p.Val330Leu