Canonical Allele Identifier: CA15407910
Gene: EPB41L4A HGNC NCBI

Linked Data

dbSNP Id: rs379440
gnomAD v2: 5-111693371-T-C
gnomAD v3: 5-112357674-T-C
gnomAD v4: 5-112357674-T-C
MyVariant Identifiers: chr5:g.111693371T>C (hg19) chr5:g.112357674T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112357674T>C , CM000667.2:g.112357674T>C GRCh38
NC_000005.9:g.111693371T>C , CM000667.1:g.111693371T>C GRCh37
NC_000005.8:g.111721270T>C NCBI36
NG_052950.1:g.66643A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261486.6:c.100-50184A>G MANE Select ENSP00000261486.5:n.100-50184A>G
ENST00000261486.5:c.100-50184A>G ENSP00000261486.5:n.100-50184A>G
ENST00000305368.8:n.374-50184A>G
ENST00000512395.5:n.62+35049A>G
ENST00000621003.4:c.100-50184A>G ENSP00000482810.1:n.100-50184A>G
NM_022140.3:c.100-50184A>G NP_071423.3:n.100-50184A>G
XM_011543530.1:c.100-50184A>G XP_011541832.1:n.100-50184A>G
XM_011543531.1:c.100-50184A>G XP_011541833.1:n.100-50184A>G
XM_011543532.1:c.100-50184A>G XP_011541834.1:n.100-50184A>G
XM_011543533.1:c.100-50184A>G XP_011541835.1:n.100-50184A>G
NM_001347887.1:c.100-50184A>G NP_001334816.1:n.100-50184A>G
NM_001347888.1:c.100-50184A>G NP_001334817.1:n.100-50184A>G
NM_022140.4:c.100-50184A>G NP_071423.4:n.100-50184A>G
NR_144931.1:n.377-50184A>G
XM_011543531.3:c.100-50184A>G XP_011541833.1:n.100-50184A>G
XM_011543532.2:c.100-50184A>G XP_011541834.1:n.100-50184A>G
XM_011543533.2:c.100-50184A>G XP_011541835.1:n.100-50184A>G
XM_017009689.2:c.100-50184A>G XP_016865178.1:n.100-50184A>G
XR_001742173.2:n.285-50184A>G
NM_022140.5:c.100-50184A>G MANE Select NP_071423.4:n.100-50184A>G
NM_001347887.2:c.100-50184A>G NP_001334816.1:n.100-50184A>G
NM_001347888.2:c.100-50184A>G NP_001334817.1:n.100-50184A>G
NR_144931.2:n.338-50184A>G
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