Canonical Allele Identifier: CA4469080

Gene: LRRC4 SND1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128029804A>T , CM000669.2:g.128029804A>T	GRCh38
NC_000007.13:g.127669857A>T , CM000669.1:g.127669857A>T	GRCh37
NC_000007.12:g.127457093A>T	NCBI36
NG_051199.1:g.382816A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249363.4:c.837T>A (LRRC4) MANE Select	ENSP00000249363.3:p.Ser279=
ENST00000354725.8:c.1779+38748A>T (SND1) MANE Select	ENSP00000346762.3:n.1779+38748A>T
ENST00000249363.3:c.837T>A (LRRC4)	ENSP00000249363.3:p.Ser279=
ENST00000354725.7:c.1779+38748A>T (SND1)	ENSP00000346762.3:n.1779+38748A>T
ENST00000470723.5:n.326+21660A>T (SND1)
ENST00000484767.5:n.340-44698A>T (SND1)
ENST00000486037.1:c.426+38748A>T (SND1)	ENSP00000419327.1:n.426+38748A>T
NM_014390.2:c.1779+38748A>T (SND1)	NP_055205.2:n.1779+38748A>T
NM_022143.4:c.837T>A (LRRC4)	NP_071426.1:p.Ser279=
XM_011516461.1:c.837T>A (LRRC4)	XP_011514763.1:p.Ser279=
NM_014390.3:c.1779+38748A>T (SND1)	NP_055205.2:n.1779+38748A>T
XM_011516461.3:c.837T>A (LRRC4)	XP_011514763.1:p.Ser279=
NM_014390.4:c.1779+38748A>T (SND1) MANE Select	NP_055205.2:n.1779+38748A>T
NM_022143.5:c.837T>A (LRRC4) MANE Select	NP_071426.1:p.Ser279=