Canonical Allele Identifier: CA1339307

Gene: CHI3L1

Linked Data

• dbSNP Id: rs547763376
• ExAC: 1:203152810 G / A
• gnomAD v2: 1-203152810-G-A
• gnomAD v3: 1-203183682-G-A
• gnomAD v4: 1-203183682-G-A
• MyVariant Identifiers: chr1:g.203152810G>A (hg19) ; chr1:g.203183682G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203183682G>A , CM000663.2:g.203183682G>A	GRCh38
NC_000001.10:g.203152810G>A , CM000663.1:g.203152810G>A	GRCh37
NC_000001.9:g.201419433G>A	NCBI36
NG_013056.1:g.8113C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255409.8:c.424C>T MANE Select	ENSP00000255409.3:p.Pro142Ser
ENST00000255409.7:c.424C>T	ENSP00000255409.3:p.Pro142Ser
NM_001276.2:c.424C>T	NP_001267.2:p.Pro142Ser
XM_011509105.1:c.442C>T	XP_011507407.1:p.Pro148Ser
XM_011509106.1:c.442C>T	XP_011507408.1:p.Pro148Ser
XM_011509107.1:c.424C>T	XP_011507409.1:p.Pro142Ser
XM_011509108.1:c.442C>T	XP_011507410.1:p.Pro148Ser
NM_001276.3:c.424C>T	NP_001267.2:p.Pro142Ser
NM_001276.4:c.424C>T MANE Select	NP_001267.2:p.Pro142Ser