Canonical Allele Identifier: CA186050
Gene: EPB41L4A HGNC NCBI

Linked Data

ClinVar Variation Id: 183292
ClinVar RCV Id: RCV000162113
dbSNP Id: rs730882207

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112204453G>A , CM000667.2:g.112204453G>A GRCh38
NC_000005.9:g.111540150G>A , CM000667.1:g.111540150G>A GRCh37
NC_000005.8:g.111568049G>A NCBI36
NG_052950.1:g.219864C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261486.6:c.1298C>T MANE Select ENSP00000261486.5:p.Ser433Leu
ENST00000261486.5:c.1298C>T ENSP00000261486.5:p.Ser433Leu
ENST00000507810.5:n.318C>T
ENST00000513333.1:n.207C>T
ENST00000515047.5:n.118C>T
ENST00000621003.4:c.1298C>T ENSP00000482810.1:p.Ser433Leu
NM_022140.3:c.1298C>T NP_071423.3:p.Ser433Leu
XM_011543530.1:c.1298C>T XP_011541832.1:p.Ser433Leu
XM_011543531.1:c.1298C>T XP_011541833.1:p.Ser433Leu
XM_011543532.1:c.1298C>T XP_011541834.1:p.Ser433Leu
XM_011543533.1:c.1214C>T XP_011541835.1:p.Ser405Leu
NM_001347887.1:c.1298C>T NP_001334816.1:p.Ser433Leu
NM_022140.4:c.1298C>T NP_071423.4:p.Ser433Leu
NR_144931.1:n.1575C>T
XM_011543531.3:c.1298C>T XP_011541833.1:p.Ser433Leu
XM_011543532.2:c.1298C>T XP_011541834.1:p.Ser433Leu
XM_011543533.2:c.1214C>T XP_011541835.1:p.Ser405Leu
XM_017009689.2:c.1214C>T XP_016865178.1:p.Ser405Leu
XR_001742173.2:n.1483C>T
NM_022140.5:c.1298C>T MANE Select NP_071423.4:p.Ser433Leu
NM_001347887.2:c.1298C>T NP_001334816.1:p.Ser433Leu
NR_144931.2:n.1536C>T