Canonical Allele Identifier: CA341625525

Gene: CHIA

Linked Data

• MyVariant Identifiers: chr1:g.111857955C>G (hg19) ; chr1:g.111315333C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111315333C>G , CM000663.2:g.111315333C>G	GRCh38
NC_000001.10:g.111857955C>G , CM000663.1:g.111857955C>G	GRCh37
NC_000001.9:g.111659478C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000369740.6:c.378C>G MANE Select	ENSP00000358755.1:p.Phe126Leu
ENST00000343320.10:c.378C>G	ENSP00000341828.6:p.Phe126Leu
ENST00000352594.10:c.54C>G	ENSP00000271312.8:p.Phe18Leu
ENST00000353665.10:c.-142-401C>G	ENSP00000338970.7:n.-142-401C>G
ENST00000369740.5:c.378C>G	ENSP00000358755.1:p.Phe126Leu
ENST00000422815.5:c.210C>G	ENSP00000387671.1:p.Phe70Leu
ENST00000430615.1:c.54C>G	ENSP00000391132.1:p.Phe18Leu
ENST00000451398.6:c.-4+737C>G	ENSP00000390476.2:n.-4+737C>G
ENST00000477918.6:n.856C>G
ENST00000483391.5:c.-4+737C>G	ENSP00000436946.1:n.-4+737C>G
ENST00000489524.5:c.-4+737C>G	ENSP00000433309.1:n.-4+737C>G
NM_001040623.2:c.-4+737C>G	NP_001035713.1:n.-4+737C>G
NM_001258001.1:c.54C>G	NP_001244930.1:p.Phe18Leu
NM_001258002.1:c.-4+737C>G	NP_001244931.1:n.-4+737C>G
NM_001258003.1:c.54C>G	NP_001244932.1:p.Phe18Leu
NM_001258004.1:c.-245C>G	NP_001244933.1:n.-245C>G
NM_001258005.1:c.-142-401C>G	NP_001244934.1:n.-142-401C>G
NM_021797.3:c.54C>G	NP_068569.2:p.Phe18Leu
NM_201653.3:c.378C>G	NP_970615.2:p.Phe126Leu
XM_006710577.2:c.-4+737C>G	XP_006710640.1:n.-4+737C>G
XM_006710577.3:c.-4+737C>G	XP_006710640.1:n.-4+737C>G
XM_017001048.1:c.54C>G	XP_016856537.1:p.Phe18Leu
NM_201653.4:c.378C>G MANE Select	NP_970615.2:p.Phe126Leu
NM_001040623.3:c.-4+737C>G	NP_001035713.1:n.-4+737C>G
NM_001258001.2:c.54C>G	NP_001244930.1:p.Phe18Leu
NM_001258002.2:c.-4+737C>G	NP_001244931.1:n.-4+737C>G
NM_001258003.2:c.54C>G	NP_001244932.1:p.Phe18Leu
NM_001258004.2:c.-245C>G	NP_001244933.1:n.-245C>G
NM_001258005.2:c.-142-401C>G	NP_001244934.1:n.-142-401C>G
NM_021797.4:c.54C>G	NP_068569.2:p.Phe18Leu