Canonical Allele Identifier: CA394884320

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1945878
• ClinVar RCV Id: RCV002667400
• gnomAD v4: 16-16169687-G-A
• MyVariant Identifiers: chr16:g.16263544G>A (hg19) ; chr16:g.16169687G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169687G>A , CM000678.2:g.16169687G>A	GRCh38
NC_000016.9:g.16263544G>A , CM000678.1:g.16263544G>A	GRCh37
NC_000016.8:g.16171045G>A	NCBI36
NG_007558.2:g.58785C>T
NG_007558.3:g.58931C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2954C>T	ENSP00000483331.2:p.Ala985Val
ENST00000205557.12:c.2954C>T MANE Select	ENSP00000205557.7:p.Ala985Val
ENST00000205557.11:c.2954C>T	ENSP00000205557.7:p.Ala985Val
ENST00000456970.6:c.2779C>T	ENSP00000405002.2:n.2779C>T
ENST00000622290.4:c.*163C>T	ENSP00000483331.1:n.*163C>T
NM_001171.5:c.2954C>T	NP_001162.4:p.Ala985Val
XM_011522479.1:c.2921C>T	XP_011520781.1:p.Ala974Val
XM_011522480.1:c.2612C>T	XP_011520782.1:p.Ala871Val
XM_011522481.1:c.2612C>T	XP_011520783.1:p.Ala871Val
XR_932836.1:n.3189C>T
XR_932837.1:n.3190C>T
XR_932838.1:n.3190C>T
NM_001351800.1:c.2612C>T	NP_001338729.1:p.Ala871Val
NR_147784.1:n.2816C>T
XM_011522479.2:c.2921C>T	XP_011520781.1:p.Ala974Val
XM_011522481.3:c.2612C>T	XP_011520783.1:p.Ala871Val
XM_017023212.1:c.2786C>T	XP_016878701.1:p.Ala929Val
XM_017023214.1:c.2954C>T	XP_016878703.1:p.Ala985Val
XM_024450261.1:c.2990C>T	XP_024306029.1:p.Ala997Val
XR_932836.2:n.3135C>T
XR_932837.3:n.3135C>T
XR_932838.3:n.3135C>T
NM_001171.6:c.2954C>T MANE Select	NP_001162.5:p.Ala985Val