Canonical Allele Identifier: CA4854262

Gene: EXT1

Linked Data

• dbSNP Id: rs374554042
• ExAC: 8:118849306 G / A
• gnomAD v2: 8-118849306-G-A
• gnomAD v3: 8-117837067-G-A
• gnomAD v4: 8-117837067-G-A
• MyVariant Identifiers: chr8:g.118849306G>A (hg19) ; chr8:g.117837067G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837067G>A , CM000670.2:g.117837067G>A	GRCh38
NC_000008.10:g.118849306G>A , CM000670.1:g.118849306G>A	GRCh37
NC_000008.9:g.118918487G>A	NCBI36
NG_007455.2:g.279753C>T , LRG_493:g.279753C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684189.1:n.523+41C>T
ENST00000378204.7:c.1056+41C>T MANE Select	ENSP00000367446.3:n.1056+41C>T
ENST00000436216.2:c.424+41C>T
ENST00000378204.6:c.1056+41C>T	ENSP00000367446.2:n.1056+41C>T
ENST00000436216.1:c.424+41C>T
ENST00000437196.1:c.74-1516C>T	ENSP00000407299.1:n.74-1516C>T
NM_000127.2:c.1056+41C>T , LRG_493t1:c.1056+41C>T	NP_000118.2:n.1056+41C>T
NM_000127.3:c.1056+41C>T MANE Select	NP_000118.2:n.1056+41C>T