Canonical Allele Identifier: CA394884365

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16263551G>C (hg19) ; chr16:g.16169694G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169694G>C , CM000678.2:g.16169694G>C	GRCh38
NC_000016.9:g.16263551G>C , CM000678.1:g.16263551G>C	GRCh37
NC_000016.8:g.16171052G>C	NCBI36
NG_007558.2:g.58778C>G
NG_007558.3:g.58924C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2947C>G	ENSP00000483331.2:p.Gln983Glu
ENST00000205557.12:c.2947C>G MANE Select	ENSP00000205557.7:p.Gln983Glu
ENST00000205557.11:c.2947C>G	ENSP00000205557.7:p.Gln983Glu
ENST00000456970.6:c.2772C>G	ENSP00000405002.2:n.2772C>G
ENST00000622290.4:c.*156C>G	ENSP00000483331.1:n.*156C>G
NM_001171.5:c.2947C>G	NP_001162.4:p.Gln983Glu
XM_011522479.1:c.2914C>G	XP_011520781.1:p.Gln972Glu
XM_011522480.1:c.2605C>G	XP_011520782.1:p.Gln869Glu
XM_011522481.1:c.2605C>G	XP_011520783.1:p.Gln869Glu
XR_932836.1:n.3182C>G
XR_932837.1:n.3183C>G
XR_932838.1:n.3183C>G
NM_001351800.1:c.2605C>G	NP_001338729.1:p.Gln869Glu
NR_147784.1:n.2809C>G
XM_011522479.2:c.2914C>G	XP_011520781.1:p.Gln972Glu
XM_011522481.3:c.2605C>G	XP_011520783.1:p.Gln869Glu
XM_017023212.1:c.2779C>G	XP_016878701.1:p.Gln927Glu
XM_017023214.1:c.2947C>G	XP_016878703.1:p.Gln983Glu
XM_024450261.1:c.2983C>G	XP_024306029.1:p.Gln995Glu
XR_932836.2:n.3128C>G
XR_932837.3:n.3128C>G
XR_932838.3:n.3128C>G
NM_001171.6:c.2947C>G MANE Select	NP_001162.5:p.Gln983Glu