Canonical Allele Identifier: CA394884778

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16169767-T-A
• MyVariant Identifiers: chr16:g.16263624T>A (hg19) ; chr16:g.16169767T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169767T>A , CM000678.2:g.16169767T>A	GRCh38
NC_000016.9:g.16263624T>A , CM000678.1:g.16263624T>A	GRCh37
NC_000016.8:g.16171125T>A	NCBI36
NG_007558.2:g.58705A>T
NG_007558.3:g.58851A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2874A>T	ENSP00000483331.2:p.Gln958His
ENST00000205557.12:c.2874A>T MANE Select	ENSP00000205557.7:p.Gln958His
ENST00000205557.11:c.2874A>T	ENSP00000205557.7:p.Gln958His
ENST00000456970.6:c.2699A>T	ENSP00000405002.2:n.2699A>T
ENST00000622290.4:c.*83A>T	ENSP00000483331.1:n.*83A>T
NM_001171.5:c.2874A>T	NP_001162.4:p.Gln958His
XM_011522479.1:c.2841A>T	XP_011520781.1:p.Gln947His
XM_011522480.1:c.2532A>T	XP_011520782.1:p.Gln844His
XM_011522481.1:c.2532A>T	XP_011520783.1:p.Gln844His
XR_932836.1:n.3109A>T
XR_932837.1:n.3110A>T
XR_932838.1:n.3110A>T
NM_001351800.1:c.2532A>T	NP_001338729.1:p.Gln844His
NR_147784.1:n.2736A>T
XM_011522479.2:c.2841A>T	XP_011520781.1:p.Gln947His
XM_011522481.3:c.2532A>T	XP_011520783.1:p.Gln844His
XM_017023212.1:c.2706A>T	XP_016878701.1:p.Gln902His
XM_017023214.1:c.2874A>T	XP_016878703.1:p.Gln958His
XM_024450261.1:c.2910A>T	XP_024306029.1:p.Gln970His
XR_932836.2:n.3055A>T
XR_932837.3:n.3055A>T
XR_932838.3:n.3055A>T
NM_001171.6:c.2874A>T MANE Select	NP_001162.5:p.Gln958His