Canonical Allele Identifier: CA394884290

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16169673-T-G
• MyVariant Identifiers: chr16:g.16263530T>G (hg19) ; chr16:g.16169673T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169673T>G , CM000678.2:g.16169673T>G	GRCh38
NC_000016.9:g.16263530T>G , CM000678.1:g.16263530T>G	GRCh37
NC_000016.8:g.16171031T>G	NCBI36
NG_007558.2:g.58799A>C
NG_007558.3:g.58945A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2968A>C	ENSP00000483331.2:p.Ile990Leu
ENST00000205557.12:c.2968A>C MANE Select	ENSP00000205557.7:p.Ile990Leu
ENST00000205557.11:c.2968A>C	ENSP00000205557.7:p.Ile990Leu
ENST00000456970.6:c.2793A>C	ENSP00000405002.2:n.2793A>C
ENST00000622290.4:c.*177A>C	ENSP00000483331.1:n.*177A>C
NM_001171.5:c.2968A>C	NP_001162.4:p.Ile990Leu
XM_011522479.1:c.2935A>C	XP_011520781.1:p.Ile979Leu
XM_011522480.1:c.2626A>C	XP_011520782.1:p.Ile876Leu
XM_011522481.1:c.2626A>C	XP_011520783.1:p.Ile876Leu
XR_932836.1:n.3203A>C
XR_932837.1:n.3204A>C
XR_932838.1:n.3204A>C
NM_001351800.1:c.2626A>C	NP_001338729.1:p.Ile876Leu
NR_147784.1:n.2830A>C
XM_011522479.2:c.2935A>C	XP_011520781.1:p.Ile979Leu
XM_011522481.3:c.2626A>C	XP_011520783.1:p.Ile876Leu
XM_017023212.1:c.2800A>C	XP_016878701.1:p.Ile934Leu
XM_017023214.1:c.2968A>C	XP_016878703.1:p.Ile990Leu
XM_024450261.1:c.3004A>C	XP_024306029.1:p.Ile1002Leu
XR_932836.2:n.3149A>C
XR_932837.3:n.3149A>C
XR_932838.3:n.3149A>C
NM_001171.6:c.2968A>C MANE Select	NP_001162.5:p.Ile990Leu