Canonical Allele Identifier: CA4815401
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 364046
ClinVar RCV Id: RCV000404111
dbSNP Id: rs74498875
ExAC: 8:97157307 G / C
gnomAD v2: 8-97157307-G-C
gnomAD v3: 8-96145079-G-C
gnomAD v4: 8-96145079-G-C
MyVariant Identifiers: chr8:g.97157307G>C (hg19) chr8:g.96145079G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145079G>C , CM000670.2:g.96145079G>C GRCh38
NC_000008.10:g.97157307G>C , CM000670.1:g.97157307G>C GRCh37
NC_000008.9:g.97226483G>C NCBI36
NG_008981.1:g.20714C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000287020.7:c.852C>G MANE Select ENSP00000287020.4:p.Ser284=
ENST00000287020.6:c.852C>G ENSP00000287020.4:p.Ser284=
ENST00000620978.1:c.790C>G ENSP00000480170.1:p.Pro264Ala
ENST00000621429.1:c.852C>G ENSP00000483711.1:p.Ser284=
NM_001001557.2:c.852C>G NP_001001557.1:p.Ser284=
XM_011517030.1:c.453C>G XP_011515332.1:p.Ser151=
NM_001001557.3:c.852C>G NP_001001557.1:p.Ser284=
NM_001001557.4:c.852C>G MANE Select NP_001001557.1:p.Ser284=
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