Canonical Allele Identifier: CA360509578

Gene: CHD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.98881075C>T , CM000667.2:g.98881075C>T	GRCh38
NC_000005.9:g.98216779C>T , CM000667.1:g.98216779C>T	GRCh37
NC_000005.8:g.98244679C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000511067.3:c.3060+1G>A	ENSP00000479403.2:n.3060+1G>A
ENST00000706140.1:n.3207+1G>A
ENST00000706141.1:c.*588+1G>A	ENSP00000516225.1:n.*588+1G>A
ENST00000614616.5:c.3060+1G>A MANE Select	ENSP00000483667.1:n.3060+1G>A
ENST00000284049.7:c.3060+1G>A	ENSP00000284049.3:n.3060+1G>A
ENST00000614616.4:c.3060+1G>A	ENSP00000483667.1:n.3060+1G>A
NM_001270.2:c.3060+1G>A	NP_001261.2:n.3060+1G>A
XM_005271866.3:c.3060+1G>A	XP_005271923.1:n.3060+1G>A
XM_005271867.3:c.3060+1G>A	XP_005271924.1:n.3060+1G>A
XM_011543112.1:c.3060+1G>A	XP_011541414.1:n.3060+1G>A
XR_427702.2:n.3292+1G>A
XR_948231.1:n.3293+1G>A
NM_001364113.1:c.3060+1G>A	NP_001351042.1:n.3060+1G>A
NR_157078.1:n.4414+1G>A
NR_157079.1:n.4384+1G>A
XM_005271867.5:c.3060+1G>A	XP_005271924.1:n.3060+1G>A
XM_017008991.1:c.273+1G>A	XP_016864480.1:n.273+1G>A
XM_017008992.1:c.273+1G>A	XP_016864481.1:n.273+1G>A
XM_024454344.1:c.3060+1G>A	XP_024310112.1:n.3060+1G>A
XM_024454345.1:c.3060+1G>A	XP_024310113.1:n.3060+1G>A
XR_001741986.2:n.4442+1G>A
XR_002959841.1:n.4442+1G>A
NM_001270.4:c.3060+1G>A MANE Select	NP_001261.2:n.3060+1G>A
NM_001364113.3:c.3060+1G>A	NP_001351042.1:n.3060+1G>A
NM_001376194.2:c.3060+1G>A	NP_001363123.1:n.3060+1G>A
NR_157078.3:n.3707+1G>A
NR_157079.3:n.3677+1G>A