Canonical Allele Identifier: CA4815384

Gene: GDF6

Linked Data

• ClinVar Variation Id: 364044
• ClinVar RCV Id: RCV000404155 ; RCV002058750
• dbSNP Id: rs757525366
• ExAC: 8:97157202 G / T
• gnomAD v2: 8-97157202-G-T
• gnomAD v3: 8-96144974-G-T
• gnomAD v4: 8-96144974-G-T
• MyVariant Identifiers: chr8:g.97157202G>T (hg19) ; chr8:g.96144974G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96144974G>T , CM000670.2:g.96144974G>T	GRCh38
NC_000008.10:g.97157202G>T , CM000670.1:g.97157202G>T	GRCh37
NC_000008.9:g.97226378G>T	NCBI36
NG_008981.1:g.20819C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.957C>A MANE Select	ENSP00000287020.4:p.Ala319=
ENST00000287020.6:c.957C>A	ENSP00000287020.4:p.Ala319=
ENST00000620978.1:c.793+102C>A	ENSP00000480170.1:n.793+102C>A
ENST00000621429.1:c.874+83C>A	ENSP00000483711.1:n.874+83C>A
NM_001001557.2:c.957C>A	NP_001001557.1:p.Ala319=
XM_011517030.1:c.558C>A	XP_011515332.1:p.Ala186=
NM_001001557.3:c.957C>A	NP_001001557.1:p.Ala319=
NM_001001557.4:c.957C>A MANE Select	NP_001001557.1:p.Ala319=