Canonical Allele Identifier: CA124933726

Gene: EPB41L4A

Linked Data

• dbSNP Id: rs13358904
• gnomAD v2: 5-111602713-A-G
• gnomAD v3: 5-112267016-A-G
• gnomAD v4: 5-112267016-A-G
• MyVariant Identifiers: chr5:g.111602713A>G (hg19) ; chr5:g.112267016A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112267016A>G , CM000667.2:g.112267016A>G	GRCh38
NC_000005.9:g.111602713A>G , CM000667.1:g.111602713A>G	GRCh37
NC_000005.8:g.111630612A>G	NCBI36
NG_052950.1:g.157301T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261486.6:c.336-686T>C MANE Select	ENSP00000261486.5:n.336-686T>C
ENST00000261486.5:c.336-686T>C	ENSP00000261486.5:n.336-686T>C
ENST00000305368.8:n.610-686T>C
ENST00000512395.5:n.299-686T>C
ENST00000621003.4:c.336-686T>C	ENSP00000482810.1:n.336-686T>C
NM_022140.3:c.336-686T>C	NP_071423.3:n.336-686T>C
XM_011543530.1:c.336-686T>C	XP_011541832.1:n.336-686T>C
XM_011543531.1:c.336-686T>C	XP_011541833.1:n.336-686T>C
XM_011543532.1:c.336-686T>C	XP_011541834.1:n.336-686T>C
XM_011543533.1:c.336-686T>C	XP_011541835.1:n.336-686T>C
NM_001347887.1:c.336-686T>C	NP_001334816.1:n.336-686T>C
NM_001347888.1:c.336-686T>C	NP_001334817.1:n.336-686T>C
NM_022140.4:c.336-686T>C	NP_071423.4:n.336-686T>C
NR_144931.1:n.613-686T>C
XM_011543531.3:c.336-686T>C	XP_011541833.1:n.336-686T>C
XM_011543532.2:c.336-686T>C	XP_011541834.1:n.336-686T>C
XM_011543533.2:c.336-686T>C	XP_011541835.1:n.336-686T>C
XM_017009689.2:c.336-686T>C	XP_016865178.1:n.336-686T>C
XR_001742173.2:n.521-686T>C
NM_022140.5:c.336-686T>C MANE Select	NP_071423.4:n.336-686T>C
NM_001347887.2:c.336-686T>C	NP_001334816.1:n.336-686T>C
NM_001347888.2:c.336-686T>C	NP_001334817.1:n.336-686T>C
NR_144931.2:n.574-686T>C