Canonical Allele Identifier: CA1136294183

Gene: CHRDL1

Linked Data

• dbSNP Id: rs2070638350
• gnomAD v3: X-110706292-T-C
• gnomAD v4: X-110706292-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.110706292T>C , CM000685.2:g.110706292T>C	GRCh38
NC_000023.10:g.109949520T>C , CM000685.1:g.109949520T>C	GRCh37
NC_000023.9:g.109836176T>C	NCBI36
NG_012816.1:g.94767A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372042.6:c.542-5571A>G MANE Select	ENSP00000361112.1:n.542-5571A>G
ENST00000372042.5:c.542-5571A>G	ENSP00000361112.1:n.542-5571A>G
ENST00000372045.5:c.521-5571A>G	ENSP00000361115.1:n.521-5571A>G
ENST00000394797.8:c.539-5571A>G	ENSP00000378276.4:n.539-5571A>G
ENST00000444321.2:c.539-5571A>G	ENSP00000399739.2:n.539-5571A>G
ENST00000482160.5:c.302-5571A>G	ENSP00000418443.1:n.302-5571A>G
NM_001143981.1:c.542-5571A>G	NP_001137453.1:n.542-5571A>G
NM_001143982.1:c.539-5571A>G	NP_001137454.1:n.539-5571A>G
NM_001143983.2:c.302-5571A>G	NP_001137455.2:n.302-5571A>G
NM_145234.3:c.539-5571A>G	NP_660277.2:n.539-5571A>G
XM_005262221.1:c.542-5571A>G	XP_005262278.1:n.542-5571A>G
XM_005262222.3:c.539-5571A>G	XP_005262279.1:n.539-5571A>G
XM_005262223.1:c.542-5571A>G	XP_005262280.1:n.542-5571A>G
XM_005262224.1:c.539-5571A>G	XP_005262281.1:n.539-5571A>G
XM_017029959.1:c.542-5571A>G	XP_016885448.1:n.542-5571A>G
NM_001367204.1:c.542-5571A>G	NP_001354133.1:n.542-5571A>G
NM_001367205.1:c.542-5571A>G	NP_001354134.1:n.542-5571A>G
NM_001367206.1:c.542-5571A>G	NP_001354135.1:n.542-5571A>G
NM_001367207.1:c.539-5571A>G	NP_001354136.1:n.539-5571A>G
NM_001367208.1:c.542-5571A>G	NP_001354137.1:n.542-5571A>G
NM_001367209.1:c.542-5571A>G	NP_001354138.1:n.542-5571A>G
NR_159734.1:n.650-2976A>G
NM_001143981.2:c.542-5571A>G MANE Select	NP_001137453.1:n.542-5571A>G
NM_001143982.2:c.539-5571A>G	NP_001137454.1:n.539-5571A>G
NM_001143983.3:c.302-5571A>G	NP_001137455.2:n.302-5571A>G
NM_145234.4:c.539-5571A>G	NP_660277.2:n.539-5571A>G