Canonical Allele Identifier: CA1003415

Gene: CHIA

Linked Data

• dbSNP Id: rs140031055
• ExAC: 1:111857960 G / A
• gnomAD v2: 1-111857960-G-A
• gnomAD v3: 1-111315338-G-A
• gnomAD v4: 1-111315338-G-A
• COSMIC: COSM3965700 ; COSM3965701
• MyVariant Identifiers: chr1:g.111857960G>A (hg19) ; chr1:g.111315338G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111315338G>A , CM000663.2:g.111315338G>A	GRCh38
NC_000001.10:g.111857960G>A , CM000663.1:g.111857960G>A	GRCh37
NC_000001.9:g.111659483G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369740.6:c.383G>A MANE Select	ENSP00000358755.1:p.Arg128His
ENST00000343320.10:c.383G>A	ENSP00000341828.6:p.Arg128His
ENST00000352594.10:c.59G>A	ENSP00000271312.8:p.Arg20His
ENST00000353665.10:c.-142-396G>A	ENSP00000338970.7:n.-142-396G>A
ENST00000369740.5:c.383G>A	ENSP00000358755.1:p.Arg128His
ENST00000422815.5:c.215G>A	ENSP00000387671.1:p.Arg72His
ENST00000430615.1:c.59G>A	ENSP00000391132.1:p.Arg20His
ENST00000451398.6:c.-4+742G>A	ENSP00000390476.2:n.-4+742G>A
ENST00000477918.6:n.861G>A
ENST00000483391.5:c.-4+742G>A	ENSP00000436946.1:n.-4+742G>A
ENST00000489524.5:c.-4+742G>A	ENSP00000433309.1:n.-4+742G>A
NM_001040623.2:c.-4+742G>A	NP_001035713.1:n.-4+742G>A
NM_001258001.1:c.59G>A	NP_001244930.1:p.Arg20His
NM_001258002.1:c.-4+742G>A	NP_001244931.1:n.-4+742G>A
NM_001258003.1:c.59G>A	NP_001244932.1:p.Arg20His
NM_001258004.1:c.-240G>A	NP_001244933.1:n.-240G>A
NM_001258005.1:c.-142-396G>A	NP_001244934.1:n.-142-396G>A
NM_021797.3:c.59G>A	NP_068569.2:p.Arg20His
NM_201653.3:c.383G>A	NP_970615.2:p.Arg128His
XM_006710577.2:c.-4+742G>A	XP_006710640.1:n.-4+742G>A
XM_006710577.3:c.-4+742G>A	XP_006710640.1:n.-4+742G>A
XM_017001048.1:c.59G>A	XP_016856537.1:p.Arg20His
NM_201653.4:c.383G>A MANE Select	NP_970615.2:p.Arg128His
NM_001040623.3:c.-4+742G>A	NP_001035713.1:n.-4+742G>A
NM_001258001.2:c.59G>A	NP_001244930.1:p.Arg20His
NM_001258002.2:c.-4+742G>A	NP_001244931.1:n.-4+742G>A
NM_001258003.2:c.59G>A	NP_001244932.1:p.Arg20His
NM_001258004.2:c.-240G>A	NP_001244933.1:n.-240G>A
NM_001258005.2:c.-142-396G>A	NP_001244934.1:n.-142-396G>A
NM_021797.4:c.59G>A	NP_068569.2:p.Arg20His