Canonical Allele Identifier: CA1272063

Gene: LHX4 ACBD6 LHX4-AS1

Linked Data

• ClinVar Variation Id: 293871
• ClinVar RCV Id: RCV000368558
• dbSNP Id: rs780869144
• ExAC: 1:180243539 C / T
• gnomAD v2: 1-180243539-C-T
• gnomAD v3: 1-180274404-C-T
• gnomAD v4: 1-180274404-C-T
• MyVariant Identifiers: chr1:g.180243539C>T (hg19) ; chr1:g.180274404C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.180274404C>T , CM000663.2:g.180274404C>T	GRCh38
NC_000001.10:g.180243539C>T , CM000663.1:g.180243539C>T	GRCh37
NC_000001.9:g.178510162C>T	NCBI36
NG_008081.1:g.49098C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263726.4:c.998C>T (LHX4) MANE Select	ENSP00000263726.2:p.Thr333Met
ENST00000642319.1:c.*936+247G>A (ACBD6)	ENSP00000495710.1:n.*936+247G>A
ENST00000645415.1:c.*1169+247G>A (ACBD6)	ENSP00000494507.1:n.*1169+247G>A
ENST00000263726.3:c.998C>T (LHX4)	ENSP00000263726.2:p.Thr333Met
ENST00000415414.5:n.31+247G>A (ACBD6)
ENST00000440959.2:n.1574+247G>A (ACBD6)
ENST00000622400.1:n.63+247G>A (ACBD6)
NM_033343.3:c.998C>T (LHX4)	NP_203129.1:p.Thr333Met
NR_037642.1:n.31+247G>A (LHX4-AS1)
XM_011510105.1:c.815C>T (LHX4)	XP_011508407.1:p.Thr272Met
XM_011510106.1:c.815C>T (LHX4)	XP_011508408.1:p.Thr272Met
XM_011510107.1:c.773C>T (LHX4)	XP_011508409.1:p.Thr258Met
XM_011510108.1:c.773C>T (LHX4)	XP_011508410.1:p.Thr258Met
XM_011510105.2:c.815C>T (LHX4)	XP_011508407.1:p.Thr272Met
XM_011510106.3:c.815C>T (LHX4)	XP_011508408.1:p.Thr272Met
XM_011510108.2:c.773C>T (LHX4)	XP_011508410.1:p.Thr258Met
XM_017002755.1:c.773C>T (LHX4)	XP_016858244.1:p.Thr258Met
XR_001737484.2:n.2343G>A (ACBD6)
XR_001737485.2:n.2326G>A (ACBD6)
XR_002957801.1:n.2245G>A (ACBD6)
XR_921977.3:n.2470G>A (ACBD6)
XR_921978.3:n.2474G>A (ACBD6)
NM_033343.4:c.998C>T (LHX4) MANE Select	NP_203129.1:p.Thr333Met