Canonical Allele Identifier: CA8622736
Gene: MYL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 476203
ClinVar RCV Id: RCV001419745
dbSNP Id: rs150593274

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47221773C>T , CM000679.2:g.47221773C>T GRCh38
NC_000017.10:g.45299139C>T , CM000679.1:g.45299139C>T GRCh37
NC_000017.9:g.42654138C>T NCBI36
NG_052847.1:g.17757C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000354968.5:c.405C>T ENSP00000347055.1:p.Phe135=
ENST00000393450.5:c.405C>T MANE Select ENSP00000377096.1:p.Phe135=
ENST00000536623.6:c.405C>T ENSP00000442375.2:p.Phe135=
ENST00000570671.1:c.116C>T
ENST00000570772.5:c.*191C>T ENSP00000458194.1:n.*191C>T
ENST00000571981.5:c.*191C>T ENSP00000459035.1:n.*191C>T
ENST00000572303.1:c.498C>T ENSP00000461747.1:p.Phe166=
ENST00000572316.5:c.405C>T ENSP00000461570.1:p.Phe135=
ENST00000573747.6:c.*7C>T ENSP00000460734.1:n.*7C>T
ENST00000576874.5:c.405C>T ENSP00000458907.1:p.Phe135=
NM_001002841.1:c.405C>T NP_001002841.1:p.Phe135=
NM_002476.2:c.405C>T MANE Select NP_002467.1:p.Phe135=
XM_005257391.3:c.405C>T XP_005257448.1:p.Phe135=
XM_011524838.1:c.405C>T XP_011523140.1:p.Phe135=
XM_011524839.1:c.195C>T XP_011523141.1:p.Phe65=
XM_005257391.5:c.405C>T XP_005257448.1:p.Phe135=
XM_011524839.2:c.498C>T XP_011523141.2:p.Phe166=
XM_017024683.1:c.498C>T XP_016880172.1:p.Phe166=
XM_024450766.1:c.498C>T XP_024306534.1:p.Phe166=
NM_001002841.2:c.405C>T NP_001002841.1:p.Phe135=