Canonical Allele Identifier: CA1344664

Gene: REN

Linked Data

• dbSNP Id: rs763240430
• ExAC: 1:204124323 A / G
• gnomAD v2: 1-204124323-A-G
• gnomAD v4: 1-204155195-A-G
• MyVariant Identifiers: chr1:g.204124323A>G (hg19) ; chr1:g.204155195A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.204155195A>G , CM000663.2:g.204155195A>G	GRCh38
NC_000001.10:g.204124323A>G , CM000663.1:g.204124323A>G	GRCh37
NC_000001.9:g.202390946A>G	NCBI36
NG_012122.1:g.16143T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272190.9:c.1060-18T>C MANE Select	ENSP00000272190.8:n.1060-18T>C
ENST00000638118.1:c.946-18T>C	ENSP00000490307.1:n.946-18T>C
ENST00000272190.8:c.1060-18T>C	ENSP00000272190.8:n.1060-18T>C
NM_000537.3:c.1060-18T>C	NP_000528.1:n.1060-18T>C
NM_000537.4:c.1060-18T>C MANE Select	NP_000528.1:n.1060-18T>C