Canonical Allele Identifier: CA3043054

Gene: LRIT3

Linked Data

• ClinVar Variation Id: 684455
• ClinVar RCV Id: RCV000844916 ; RCV001398189
• dbSNP Id: rs538101562
• ExAC: 4:110788940 C / T
• gnomAD v2: 4-110788940-C-T
• gnomAD v3: 4-109867784-C-T
• gnomAD v4: 4-109867784-C-T
• MyVariant Identifiers: chr4:g.110788940C>T (hg19) ; chr4:g.109867784C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.109867784C>T , CM000666.2:g.109867784C>T	GRCh38
NC_000004.11:g.110788940C>T , CM000666.1:g.110788940C>T	GRCh37
NC_000004.10:g.111008389C>T	NCBI36
NG_033249.1:g.24601C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000594814.6:c.733C>T MANE Select	ENSP00000469759.1:p.Arg245Trp
ENST00000327908.3:c.184C>T	ENSP00000328222.3:p.Arg62Trp
ENST00000594814.5:c.733C>T	ENSP00000469759.1:p.Arg245Trp
NM_198506.4:c.733C>T	NP_940908.3:p.Arg245Trp
XM_005262979.2:c.184C>T	XP_005263036.1:p.Arg62Trp
XM_017008167.1:c.184C>T	XP_016863656.1:p.Arg62Trp
NM_198506.5:c.733C>T MANE Select	NP_940908.3:p.Arg245Trp