Canonical Allele Identifier: CA4468906

Gene: LRRC4 SND1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128028925G>C , CM000669.2:g.128028925G>C	GRCh38
NC_000007.13:g.127668978G>C , CM000669.1:g.127668978G>C	GRCh37
NC_000007.12:g.127456214G>C	NCBI36
NG_051199.1:g.381937G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249363.4:c.1716C>G (LRRC4) MANE Select	ENSP00000249363.3:p.Asp572Glu
ENST00000354725.8:c.1779+37869G>C (SND1) MANE Select	ENSP00000346762.3:n.1779+37869G>C
ENST00000249363.3:c.1716C>G (LRRC4)	ENSP00000249363.3:p.Asp572Glu
ENST00000354725.7:c.1779+37869G>C (SND1)	ENSP00000346762.3:n.1779+37869G>C
ENST00000470723.5:n.326+20781G>C (SND1)
ENST00000484767.5:n.340-45577G>C (SND1)
ENST00000486037.1:c.426+37869G>C (SND1)	ENSP00000419327.1:n.426+37869G>C
NM_014390.2:c.1779+37869G>C (SND1)	NP_055205.2:n.1779+37869G>C
NM_022143.4:c.1716C>G (LRRC4)	NP_071426.1:p.Asp572Glu
XM_011516461.1:c.1716C>G (LRRC4)	XP_011514763.1:p.Asp572Glu
NM_014390.3:c.1779+37869G>C (SND1)	NP_055205.2:n.1779+37869G>C
XM_011516461.3:c.1716C>G (LRRC4)	XP_011514763.1:p.Asp572Glu
NM_014390.4:c.1779+37869G>C (SND1) MANE Select	NP_055205.2:n.1779+37869G>C
NM_022143.5:c.1716C>G (LRRC4) MANE Select	NP_071426.1:p.Asp572Glu