Canonical Allele Identifier: CA760990293

Gene: CHN1

Linked Data

• dbSNP Id: rs1238937530
• gnomAD v3: 2-174799436-A-G
• gnomAD v4: 2-174799436-A-G
• MyVariant Identifiers: chr2:g.175664164A>G (hg19) ; chr2:g.174799436A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174799436A>G , CM000664.2:g.174799436A>G	GRCh38
NC_000002.11:g.175664164A>G , CM000664.1:g.175664164A>G	GRCh37
NC_000002.10:g.175372410A>G	NCBI36
NG_012642.1:g.211007T>C
NG_012642.2:g.211007T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.*680T>C	ENSP00000295497.7:n.*680T>C
ENST00000295497.12:c.*680T>C	ENSP00000295497.7:n.*680T>C
ENST00000409900.9:c.*680T>C MANE Select	ENSP00000386741.4:n.*680T>C
ENST00000443238.6:c.*680T>C	ENSP00000409798.2:n.*680T>C
ENST00000652036.1:c.*680T>C	ENSP00000499139.1:n.*680T>C
ENST00000409900.7:c.*680T>C	ENSP00000386741.3:n.*680T>C
NM_001025201.3:c.*680T>C	NP_001020372.2:n.*680T>C
NM_001206602.1:c.*680T>C	NP_001193531.1:n.*680T>C
NM_001822.5:c.*680T>C	NP_001813.1:n.*680T>C
NR_038133.1:n.1926T>C
NM_001025201.4:c.*680T>C	NP_001020372.2:n.*680T>C
NM_001206602.2:c.*680T>C	NP_001193531.1:n.*680T>C
NM_001371513.1:c.*680T>C	NP_001358442.1:n.*680T>C
NM_001371514.1:c.*680T>C	NP_001358443.1:n.*680T>C
NM_001822.7:c.*680T>C MANE Select	NP_001813.1:n.*680T>C
NR_038133.2:n.1928T>C