Canonical Allele Identifier: CA7925761

Gene: ABCC6

Linked Data

• dbSNP Id: rs781769354
• ExAC: 16:16263620 C / T
• gnomAD v2: 16-16263620-C-T
• gnomAD v3: 16-16169763-C-T
• gnomAD v4: 16-16169763-C-T
• MyVariant Identifiers: chr16:g.16263620C>T (hg19) ; chr16:g.16169763C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169763C>T , CM000678.2:g.16169763C>T	GRCh38
NC_000016.9:g.16263620C>T , CM000678.1:g.16263620C>T	GRCh37
NC_000016.8:g.16171121C>T	NCBI36
NG_007558.2:g.58709G>A
NG_007558.3:g.58855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2878G>A	ENSP00000483331.2:p.Ala960Thr
ENST00000205557.12:c.2878G>A MANE Select	ENSP00000205557.7:p.Ala960Thr
ENST00000205557.11:c.2878G>A	ENSP00000205557.7:p.Ala960Thr
ENST00000456970.6:c.2703G>A	ENSP00000405002.2:n.2703G>A
ENST00000622290.4:c.*87G>A	ENSP00000483331.1:n.*87G>A
NM_001171.5:c.2878G>A	NP_001162.4:p.Ala960Thr
XM_011522479.1:c.2845G>A	XP_011520781.1:p.Ala949Thr
XM_011522480.1:c.2536G>A	XP_011520782.1:p.Ala846Thr
XM_011522481.1:c.2536G>A	XP_011520783.1:p.Ala846Thr
XR_932836.1:n.3113G>A
XR_932837.1:n.3114G>A
XR_932838.1:n.3114G>A
NM_001351800.1:c.2536G>A	NP_001338729.1:p.Ala846Thr
NR_147784.1:n.2740G>A
XM_011522479.2:c.2845G>A	XP_011520781.1:p.Ala949Thr
XM_011522481.3:c.2536G>A	XP_011520783.1:p.Ala846Thr
XM_017023212.1:c.2710G>A	XP_016878701.1:p.Ala904Thr
XM_017023214.1:c.2878G>A	XP_016878703.1:p.Ala960Thr
XM_024450261.1:c.2914G>A	XP_024306029.1:p.Ala972Thr
XR_932836.2:n.3059G>A
XR_932837.3:n.3059G>A
XR_932838.3:n.3059G>A
NM_001171.6:c.2878G>A MANE Select	NP_001162.5:p.Ala960Thr