Canonical Allele Identifier: CA2635576079
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898063-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898063G>A , CM000679.2:g.4898063G>A GRCh38
NC_000017.10:g.4801358G>A , CM000679.1:g.4801358G>A GRCh37
NC_000017.9:g.4742137G>A NCBI36
NG_008029.2:g.10013C>T
NG_028005.1:g.69724G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*673C>T MANE Select ENSP00000497829.1:n.*673C>T
ENST00000652550.1:n.1881C>T
ENST00000293780.4:c.*673C>T ENSP00000293780.4:n.*673C>T
ENST00000572438.1:n.1841C>T
NM_000080.3:c.*673C>T NP_000071.1:n.*673C>T
NM_000080.4:c.*673C>T MANE Select NP_000071.1:n.*673C>T
XM_017024115.1:c.*673C>T XP_016879604.1:n.*673C>T