Canonical Allele Identifier: CA7083133

Gene: ANG RNASE4 EGILA

Linked Data

• dbSNP Id: rs762965174
• ExAC: 14:21161788 C / T
• gnomAD v2: 14-21161788-C-T
• gnomAD v4: 14-20693629-C-T
• MyVariant Identifiers: chr14:g.21161788C>T (hg19) ; chr14:g.20693629C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20693629C>T , CM000676.2:g.20693629C>T	GRCh38
NC_000014.8:g.21161788C>T , CM000676.1:g.21161788C>T	GRCh37
NC_000014.7:g.20231628C>T	NCBI36
NG_008717.2:g.14453C>T , LRG_653:g.14453C>T
NG_033053.1:g.14417C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000397990.5:c.65C>T (ANG) MANE Select	ENSP00000381077.4:p.Thr22Ile
ENST00000555835.3:c.-17-5726C>T (RNASE4) MANE Select	ENSP00000452245.1:n.-17-5726C>T
ENST00000336811.10:c.65C>T (ANG)	ENSP00000336762.6:p.Thr22Ile
ENST00000397990.4:c.65C>T (ANG)	ENSP00000381077.4:p.Thr22Ile
ENST00000397995.2:c.-17-5726C>T (RNASE4)	ENSP00000381081.2:n.-17-5726C>T
ENST00000553909.1:c.65C>T	ENSP00000477037.1:p.Thr22Ile
ENST00000554073.1:n.146-5237C>T (ANG)
ENST00000555597.1:c.-18+4755C>T (RNASE4)	ENSP00000451624.1:n.-18+4755C>T
ENST00000555835.2:c.-17-5726C>T (RNASE4)	ENSP00000452245.1:n.-17-5726C>T
NM_001097577.2:c.65C>T (ANG)	NP_001091046.1:p.Thr22Ile
NM_001145.4:c.65C>T , LRG_653t1:c.65C>T (ANG)	NP_001136.1:p.Thr22Ile
NM_001282192.1:c.-39C>T (RNASE4)	NP_001269121.1:n.-39C>T
NM_001282193.1:c.-17-5726C>T (RNASE4)	NP_001269122.1:n.-17-5726C>T
NM_002937.4:c.-17-5726C>T (RNASE4)	NP_002928.1:n.-17-5726C>T
NM_194431.2:c.-18+4755C>T (RNASE4)	NP_919412.1:n.-18+4755C>T
NM_002937.5:c.-17-5726C>T (RNASE4) MANE Select	NP_002928.1:n.-17-5726C>T
NM_001097577.3:c.65C>T (ANG) MANE Select	NP_001091046.1:p.Thr22Ile
NM_001282192.2:c.-39C>T (RNASE4)	NP_001269121.1:n.-39C>T
NM_001282193.2:c.-17-5726C>T (RNASE4)	NP_001269122.1:n.-17-5726C>T
NM_194431.3:c.-18+4755C>T (RNASE4)	NP_919412.1:n.-18+4755C>T
NM_001385271.1:c.65C>T (ANG)	NP_001372200.1:p.Thr22Ile
NM_001385272.1:c.65C>T (ANG)	NP_001372201.1:p.Thr22Ile
NM_001385273.1:c.65C>T (ANG)	NP_001372202.1:p.Thr22Ile
NM_001385274.1:c.65C>T (ANG)	NP_001372203.1:p.Thr22Ile
NR_174964.1:n.587G>A (EGILA)