Canonical Allele Identifier: CA7083122

Linked Data

ClinVar Variation Id: 882865
ClinVar RCV Id: RCV001112906
dbSNP Id: rs200240901

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20693602T>C , CM000676.2:g.20693602T>C GRCh38
NC_000014.8:g.21161761T>C , CM000676.1:g.21161761T>C GRCh37
NC_000014.7:g.20231601T>C NCBI36
NG_008717.2:g.14426T>C , LRG_653:g.14426T>C
NG_033053.1:g.14390T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000397990.5:c.38T>C (ANG) MANE Select ENSP00000381077.4:p.Val13Ala
ENST00000555835.3:c.-17-5753T>C (RNASE4) MANE Select ENSP00000452245.1:n.-17-5753T>C
ENST00000336811.10:c.38T>C (ANG) ENSP00000336762.6:p.Val13Ala
ENST00000397990.4:c.38T>C (ANG) ENSP00000381077.4:p.Val13Ala
ENST00000397995.2:c.-17-5753T>C (RNASE4) ENSP00000381081.2:n.-17-5753T>C
ENST00000553909.1:c.38T>C ENSP00000477037.1:p.Val13Ala
ENST00000554073.1:n.146-5264T>C (ANG)
ENST00000555597.1:c.-18+4728T>C (RNASE4) ENSP00000451624.1:n.-18+4728T>C
ENST00000555835.2:c.-17-5753T>C (RNASE4) ENSP00000452245.1:n.-17-5753T>C
NM_001097577.2:c.38T>C (ANG) NP_001091046.1:p.Val13Ala
NM_001145.4:c.38T>C , LRG_653t1:c.38T>C (ANG) NP_001136.1:p.Val13Ala
NM_001282192.1:c.-66T>C (RNASE4) NP_001269121.1:n.-66T>C
NM_001282193.1:c.-17-5753T>C (RNASE4) NP_001269122.1:n.-17-5753T>C
NM_002937.4:c.-17-5753T>C (RNASE4) NP_002928.1:n.-17-5753T>C
NM_194431.2:c.-18+4728T>C (RNASE4) NP_919412.1:n.-18+4728T>C
NM_002937.5:c.-17-5753T>C (RNASE4) MANE Select NP_002928.1:n.-17-5753T>C
NM_001097577.3:c.38T>C (ANG) MANE Select NP_001091046.1:p.Val13Ala
NM_001282192.2:c.-66T>C (RNASE4) NP_001269121.1:n.-66T>C
NM_001282193.2:c.-17-5753T>C (RNASE4) NP_001269122.1:n.-17-5753T>C
NM_194431.3:c.-18+4728T>C (RNASE4) NP_919412.1:n.-18+4728T>C
NM_001385271.1:c.38T>C (ANG) NP_001372200.1:p.Val13Ala
NM_001385272.1:c.38T>C (ANG) NP_001372201.1:p.Val13Ala
NM_001385273.1:c.38T>C (ANG) NP_001372202.1:p.Val13Ala
NM_001385274.1:c.38T>C (ANG) NP_001372203.1:p.Val13Ala
NR_174964.1:n.614A>G (EGILA)