Canonical Allele Identifier: CA394885076

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16169841-C-A
• MyVariant Identifiers: chr16:g.16263698C>A (hg19) ; chr16:g.16169841C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169841C>A , CM000678.2:g.16169841C>A	GRCh38
NC_000016.9:g.16263698C>A , CM000678.1:g.16263698C>A	GRCh37
NC_000016.8:g.16171199C>A	NCBI36
NG_007558.2:g.58631G>T
NG_007558.3:g.58777G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2800G>T	ENSP00000483331.2:p.Val934Leu
ENST00000205557.12:c.2800G>T MANE Select	ENSP00000205557.7:p.Val934Leu
ENST00000205557.11:c.2800G>T	ENSP00000205557.7:p.Val934Leu
ENST00000456970.6:c.2625G>T	ENSP00000405002.2:n.2625G>T
ENST00000622290.4:c.*9G>T	ENSP00000483331.1:n.*9G>T
NM_001171.5:c.2800G>T	NP_001162.4:p.Val934Leu
XM_011522479.1:c.2767G>T	XP_011520781.1:p.Val923Leu
XM_011522480.1:c.2458G>T	XP_011520782.1:p.Val820Leu
XM_011522481.1:c.2458G>T	XP_011520783.1:p.Val820Leu
XR_932836.1:n.3035G>T
XR_932837.1:n.3036G>T
XR_932838.1:n.3036G>T
NM_001351800.1:c.2458G>T	NP_001338729.1:p.Val820Leu
NR_147784.1:n.2662G>T
XM_011522479.2:c.2767G>T	XP_011520781.1:p.Val923Leu
XM_011522481.3:c.2458G>T	XP_011520783.1:p.Val820Leu
XM_017023212.1:c.2632G>T	XP_016878701.1:p.Val878Leu
XM_017023214.1:c.2800G>T	XP_016878703.1:p.Val934Leu
XM_024450261.1:c.2836G>T	XP_024306029.1:p.Val946Leu
XR_932836.2:n.2981G>T
XR_932837.3:n.2981G>T
XR_932838.3:n.2981G>T
NM_001171.6:c.2800G>T MANE Select	NP_001162.5:p.Val934Leu