Canonical Allele Identifier: CA294921

Gene: NSD1

Linked Data

• ClinVar Variation Id: 159351
• ClinVar RCV Id: RCV003231251
• dbSNP Id: rs587784130
• ExAC: 5:176684167 T / C
• gnomAD v2: 5-176684167-T-C
• gnomAD v3: 5-177257166-T-C
• gnomAD v4: 5-177257166-T-C
• MyVariant Identifiers: chr5:g.176684167T>C (hg19) ; chr5:g.177257166T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177257166T>C , CM000667.2:g.177257166T>C	GRCh38
NC_000005.9:g.176684167T>C , CM000667.1:g.176684167T>C	GRCh37
NC_000005.8:g.176616773T>C	NCBI36
NG_009821.1:g.129088T>C , LRG_512:g.129088T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508896.7:c.4093+15T>C	ENSP00000423372.3:n.4093+15T>C
ENST00000347982.9:c.4093+15T>C	ENSP00000343209.5:n.4093+15T>C
ENST00000354179.9:c.4093+15T>C	ENSP00000346111.5:n.4093+15T>C
ENST00000685206.1:n.4549+15T>C
ENST00000686993.1:c.4093+15T>C	ENSP00000510020.1:n.4093+15T>C
ENST00000687453.1:c.4657+15T>C	ENSP00000508426.1:n.4657+15T>C
ENST00000688613.1:n.4363+15T>C
ENST00000689345.1:c.4093+15T>C	ENSP00000509711.1:n.4093+15T>C
ENST00000689549.1:n.5113+15T>C
ENST00000439151.7:c.4966+15T>C MANE Select	ENSP00000395929.2:n.4966+15T>C
ENST00000347982.8:c.4159+15T>C	ENSP00000343209.4:n.4159+15T>C
ENST00000354179.8:c.4159+15T>C	ENSP00000346111.4:n.4159+15T>C
ENST00000439151.6:c.4966+15T>C	ENSP00000395929.2:n.4966+15T>C
NM_022455.4:c.4966+15T>C , LRG_512t1:c.4966+15T>C	NP_071900.2:n.4966+15T>C
NM_172349.2:c.4159+15T>C	NP_758859.1:n.4159+15T>C
XM_005265959.1:c.4966+15T>C	XP_005266016.1:n.4966+15T>C
XM_005265960.1:c.4159+15T>C	XP_005266017.1:n.4159+15T>C
XM_005265961.1:c.4159+15T>C	XP_005266018.1:n.4159+15T>C
XM_005265962.3:c.460+15T>C	XP_005266019.1:n.460+15T>C
XM_011534610.1:c.4966+15T>C	XP_011532912.1:n.4966+15T>C
XM_011534611.1:c.4966+15T>C	XP_011532913.1:n.4966+15T>C
XM_011534612.1:c.4546+15T>C	XP_011532914.1:n.4546+15T>C
XM_011534613.1:c.3910+15T>C	XP_011532915.1:n.3910+15T>C
XM_011534614.1:c.4966+15T>C	XP_011532916.1:n.4966+15T>C
XM_011534617.1:c.700+15T>C	XP_011532919.1:n.700+15T>C
NM_001365684.1:c.4159+15T>C	NP_001352613.1:n.4159+15T>C
XM_024446150.1:c.4966+15T>C	XP_024301918.1:n.4966+15T>C
XM_024446151.1:c.4966+15T>C	XP_024301919.1:n.4966+15T>C
XM_024446152.1:c.4966+15T>C	XP_024301920.1:n.4966+15T>C
XM_024446153.1:c.4966+15T>C	XP_024301921.1:n.4966+15T>C
XM_024446154.1:c.4546+15T>C	XP_024301922.1:n.4546+15T>C
XM_024446155.1:c.4159+15T>C	XP_024301923.1:n.4159+15T>C
XM_024446156.1:c.4159+15T>C	XP_024301924.1:n.4159+15T>C
XM_024446158.1:c.4159+15T>C	XP_024301926.1:n.4159+15T>C
XM_024446159.1:c.3910+15T>C	XP_024301927.1:n.3910+15T>C
XM_024446160.1:c.4966+15T>C	XP_024301928.1:n.4966+15T>C
XM_024446162.1:c.700+15T>C	XP_024301930.1:n.700+15T>C
XM_024446163.1:c.460+15T>C	XP_024301931.1:n.460+15T>C
NM_022455.5:c.4966+15T>C MANE Select	NP_071900.2:n.4966+15T>C
NM_172349.3:c.4159+15T>C	NP_758859.1:n.4159+15T>C