Canonical Allele Identifier: CA7481700

Gene: CHST14

Linked Data

• ClinVar Variation Id: 1310688
• ClinVar RCV Id: RCV001767802 ; RCV003298972
• dbSNP Id: rs756985970
• ExAC: 15:40764530 C / T
• gnomAD v2: 15-40764530-C-T
• gnomAD v3: 15-40472331-C-T
• gnomAD v4: 15-40472331-C-T
• MyVariant Identifiers: chr15:g.40764530C>T (hg19) ; chr15:g.40472331C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40472331C>T , CM000677.2:g.40472331C>T	GRCh38
NC_000015.9:g.40764530C>T , CM000677.1:g.40764530C>T	GRCh37
NC_000015.8:g.38551822C>T	NCBI36
NG_017074.1:g.6371C>T , LRG_600:g.6371C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306243.7:c.1118C>T MANE Select	ENSP00000307297.6:p.Ala373Val
ENST00000306243.6:c.1118C>T	ENSP00000307297.5:p.Ala373Val
ENST00000559991.1:c.1043C>T	ENSP00000453882.1:p.Ala348Val
NM_130468.3:c.1118C>T , LRG_600t1:c.1118C>T	NP_569735.1:p.Ala373Val
NM_130468.4:c.1118C>T MANE Select	NP_569735.1:p.Ala373Val