Canonical Allele Identifier: CA462454651
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1554751
ClinVar RCV Id: RCV002190348
dbSNP Id: rs1465598776
gnomAD v2: 8-97172708-A-C
gnomAD v4: 8-96160480-A-C
MyVariant Identifiers: chr8:g.97172708A>C (hg19) chr8:g.96160480A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96160480A>C , CM000670.2:g.96160480A>C GRCh38
NC_000008.10:g.97172708A>C , CM000670.1:g.97172708A>C GRCh37
NC_000008.9:g.97241884A>C NCBI36
NG_008981.1:g.5313T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000287020.7:c.213T>G MANE Select ENSP00000287020.4:p.Pro71=
ENST00000287020.6:c.213T>G ENSP00000287020.4:p.Pro71=
ENST00000620978.1:c.213T>G ENSP00000480170.1:p.Pro71=
ENST00000621429.1:c.213T>G ENSP00000483711.1:p.Pro71=
NM_001001557.2:c.213T>G NP_001001557.1:p.Pro71=
NM_001001557.3:c.213T>G NP_001001557.1:p.Pro71=
NM_001001557.4:c.213T>G MANE Select NP_001001557.1:p.Pro71=
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