Canonical Allele Identifier: CA1271851

Gene: LHX4

Linked Data

• dbSNP Id: rs773975101
• ExAC: 1:180235547 C / T
• gnomAD v2: 1-180235547-C-T
• gnomAD v3: 1-180266412-C-T
• gnomAD v4: 1-180266412-C-T
• COSMIC: COSM4877337
• MyVariant Identifiers: chr1:g.180235547C>T (hg19) ; chr1:g.180266412C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.180266412C>T , CM000663.2:g.180266412C>T	GRCh38
NC_000001.10:g.180235547C>T , CM000663.1:g.180235547C>T	GRCh37
NC_000001.9:g.178502170C>T	NCBI36
NG_008081.1:g.41106C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263726.4:c.269C>T MANE Select	ENSP00000263726.2:p.Thr90Met
ENST00000263726.3:c.269C>T	ENSP00000263726.2:p.Thr90Met
ENST00000561113.1:c.206C>T
NM_033343.3:c.269C>T	NP_203129.1:p.Thr90Met
XM_011510105.1:c.86C>T	XP_011508407.1:p.Thr29Met
XM_011510106.1:c.86C>T	XP_011508408.1:p.Thr29Met
XM_011510107.1:c.44C>T	XP_011508409.1:p.Thr15Met
XM_011510108.1:c.44C>T	XP_011508410.1:p.Thr15Met
XM_011510105.2:c.86C>T	XP_011508407.1:p.Thr29Met
XM_011510106.3:c.86C>T	XP_011508408.1:p.Thr29Met
XM_011510108.2:c.44C>T	XP_011508410.1:p.Thr15Met
XM_017002755.1:c.44C>T	XP_016858244.1:p.Thr15Met
NM_033343.4:c.269C>T MANE Select	NP_203129.1:p.Thr90Met