Canonical Allele Identifier: CA2662020245

Gene: CHRNA1

Linked Data

• gnomAD v4: 2-174749939-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174749939C>G , CM000664.2:g.174749939C>G	GRCh38
NC_000002.11:g.175614667C>G , CM000664.1:g.175614667C>G	GRCh37
NC_000002.10:g.175322913C>G	NCBI36
NG_008172.1:g.19534G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636168.2:c.513+7G>C	ENSP00000490338.2:n.513+7G>C
ENST00000672640.1:c.513+7G>C	ENSP00000500507.1:n.513+7G>C
ENST00000261007.9:c.1077+7G>C	ENSP00000261007.5:n.1077+7G>C
ENST00000348749.9:c.1002+7G>C MANE Select	ENSP00000261008.5:n.1002+7G>C
ENST00000409219.5:c.1002+7G>C	ENSP00000386611.1:n.1002+7G>C
ENST00000409542.5:c.756+7G>C	ENSP00000387026.1:n.756+7G>C
ENST00000435083.5:c.*646+7G>C	ENSP00000395805.1:n.*646+7G>C
NM_000079.3:c.1002+7G>C	NP_000070.1:n.1002+7G>C
NM_001039523.2:c.1077+7G>C	NP_001034612.1:n.1077+7G>C
XM_017003256.1:c.1098+7G>C	XP_016858745.1:n.1098+7G>C
XM_017003257.1:c.1023+7G>C	XP_016858746.1:n.1023+7G>C
NM_000079.4:c.1002+7G>C MANE Select	NP_000070.1:n.1002+7G>C
NM_001039523.3:c.1077+7G>C	NP_001034612.1:n.1077+7G>C